Ataxia, Comprehensive Genetic Testing - Targeted NGS Gene Panel (Ataxia). Genes: AARS2, ABCA2, ABCB7, ABCD1, ABHD12, ACO2, ADCK3, ADPRHL2, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ANO10, APTX, ARL13B, ARL6, ATCAY, ATM, ATP13A2, ATP1A3, ATP2B3, ATP7B, ATP8A2, AUH, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BB - Diagnostic Tests | Purchase the test online

The Comprehensive Genetic Test for Ataxia utilizes next-generation sequencing (NGS) to examine 257 genes associated with hereditary ataxia and neurodegenerative disorders. It is a targeted gene panel specifically designed to support accurate diagnosis, risk assessment, and prevention.

More Information

The Comprehensive Genetic Test for Ataxia is a specialized genetic test designed to support the evaluation of individuals with a clinical suspicion of hereditary ataxia. The Comprehensive Genetic Test for Ataxia analyzes a set of related genes, including both coding and selected non-coding regions, and incorporates assessment of the maternally inherited mitochondrial genome. The comprehensive genetic test for ataxia is particularly valuable in cases where repeat expansion disorders have already been excluded based on clinical presentation or prior analysis. The comprehensive genetic test for ataxia is used to investigate the underlying genetic causes of progressive or episodic coordination disorders, enabling a more precise characterization of complex neurological phenotypes associated with cerebellar dysfunction.

The comprehensive genetic test for ataxia includes genes that play essential roles in neuronal development, synaptic transmission, mitochondrial function, and DNA repair. Representative genes such as ATM, FXN, CACNA1A, SETX, and POLG are associated with key cellular pathways including oxidative phosphorylation, ion channel regulation, and genome stability. These biological processes are critical for maintaining cerebellar integrity and coordinated motor control. Disruption of these pathways leads to neuronal degeneration and impaired signal transmission. The comprehensive genetic test for ataxia is indicated in individuals presenting with unexplained ataxia, particularly when common repeat expansion causes have been excluded or are clinically unlikely.

Hereditary ataxias represent a heterogeneous group of neurodegenerative disorders characterized primarily by progressive gait instability and impaired coordination. Clinical manifestations frequently include dysarthria, oculomotor abnormalities, and fine motor difficulties. Episodic forms may present with transient attacks of imbalance, often accompanied by nystagmus, vertigo, or dysarthria, while some subtypes may also include myokymia or sensorineural hearing loss. Both autosomal dominant and autosomal recessive inheritance patterns are observed, with phenotypic variability ranging from early-onset severe presentations to milder adult-onset forms. Cerebellar atrophy is commonly observed and contributes significantly to disease progression.

The purpose of the comprehensive genetic test for ataxia is to identify genetic variants associated with a broad spectrum of hereditary ataxias, including cerebellar ataxias, episodic ataxias, and spinocerebellar ataxias. By encompassing a wide range of relevant genes and the mitochondrial genome, the panel enhances diagnostic yield in genetically complex cases. It facilitates the differentiation between overlapping clinical entities and supports the identification of rare or atypical genetic causes. The results contribute to improved disease classification, enable risk assessment, and provide valuable insights into the molecular basis of neurodegeneration.

A higher genetic risk is confirmed when pathogenic mutations are found in genes associated with hereditary ataxias. A lower risk may be inferred when no mutations are detected, though comprehensive clinical follow-up is still essential. The integration of genetic data with clinical findings and family history is critical for precise diagnosis, prognosis, and long-term patient care.

The test is performed in a clinical laboratory accredited to ISO 15189 and certified by CLIA and CAP, ensuring the validity, accuracy and international recognition of the results.

Genes and Associated Phenotypes (Comprehensive Genetic Testing for Ataxia)

Gene	Associated phenotypes	Inheritance	ClinVar	HGMD
AARS2	Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation deficiency 8	AR	19	31
ABCA2	Intellectual disability and seizures	AR		4
ABCB7	Anemia, sideroblastic, and spinocerebellar ataxia	XL	8	9
ABCD1*	Adrenoleukodystrophy	XL	95	663
ABHD12	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	AR	16	20
ACO2	Optic atrophy, Infantile cerebellar-retinal degeneration	AD/AR	16	15
ADCK3	Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia	AR	45	43
ADPRHL2	Neurodegeneration, childhood-onset, with brain atrophy	AR		1
AFG3L2*	Spastic ataxia, Spinocerebellar ataxia	AD/AR	22	40
AGTPBP1	Neuropathy	AR	3	1
AHI1	Joubert syndrome	AR	62	93
ALDH5A1#	Succinic semialdehyde dehydrogenase deficiency	AR	16	70
ANO10	Spinocerebellar ataxia	AR	19	18
APTX	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR	14	46
ARL13B	Joubert syndrome	AR	11	10
ARL6	Bardet-Biedl syndrome, Retinitis pigmentosa	AR	14	21
ATCAY	Ataxia, cerebellar, Cayman	AR	1	3
ATM	Breast cancer, Ataxia-Telangiectasia	AD/AR	1047	1109
ATP13A2	Parkinson disease (Kufor-Rakeb syndrome)	AR	21	40
ATP1A3	Alternating hemiplegia of childhood, Dystonia 12	AD	79	112
ATP2B3	Spinocerebellar ataxia, X-linked 1	XL	6	7
ATP7B	Wilson disease	AR	219	897
ATP8A2	Dysequilibrium syndrome	AR	9	11
AUH	3-methylglutaconic aciduria	AR	12	11
BBS1	Bardet-Biedl syndrome	AR	66	103
BBS10	Bardet-Biedl syndrome	AR	90	107
BBS12	Bardet-Biedl syndrome	AR	36	58
BBS2	Bardet-Biedl syndrome, Retinitis pigmentosa	AR	58	91
BBS4	Bardet-Biedl syndrome	AR	25	53
BBS5	Bardet-Biedl syndrome	AR	18	31
BBS7	Bardet-Biedl syndrome	AR	19	43
BBS9	Bardet-Biedl syndrome	AR	27	52
BEAN1#	Spinocerebellar ataxia	AD	1	2
C10ORF2	Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3	AD/AR	37	80
C12ORF4	Developmental delay and seizures with or without movement abnormalities (DEDSM)	AR	1	5
C5ORF42	Orofaciodigital syndrome VI, Joubert syndrome 17	AR	97	103
CA8	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome	AR	4	4
CACNA1A	Migraine, familial hemiplegic, Episodic ataxia, Spinocerebellar ataxia 6, Epileptic encephalopathy, early infantile, 42	AD	135	230
CACNA1G	Spinocerebellar ataxia 42	AD	8	11
CACNA2D2	Early infantile epileptic encephalopathy, High voltage gated calcium channelopathy-related, autosomal recessive	AR	5	5
CACNB4	Episodic ataxia, Epilepsy, idiopathic generalized, susceptibility to, 9	AD	2	7
CAMTA1	Cerebellar ataxia, nonprogressive, with mental retardation	AD	38	8
CAPN1	Spastic paraplegia 76, autosomal recessive	AR	6	16
CASK	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Intellectual developmental disorder	XL	87	112
CC2D2A	COACH syndrome, Joubert syndrome, Meckel syndrome	AR	76	91
CCDC88C	Spinocerebellar ataxia	AD	6	10
CEP290*	Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome	AR	130	289
CEP41	Joubert syndrome	AR/Digenic	7	11
CHCHD10	Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type	AD	4	26
CLCN2	Leukoencephalopathy with ataxia, Epilepsy	AD/AR	30	36
CLN5	Neuronal ceroid lipofuscinosis, type 5	AR	62	47
CLN6	Neuronal ceroid lipofuscinosis, type 6	AR	41	83
CLN8	Neuronal ceroid lipofuscinosis, type 8	AR	45	44
CLPB	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)	AD/AR	26	25
CLPP	Deafness	AR	4	13
COA7	Spinocerebellar ataxia, Charcot-Marie-Tooth disease	AR	2	7
COASY	Neurodegeneration with brain iron accumulation 6	AR	3	3
COQ2	Coenzyme Q10 deficiency	AR	16	31
COQ4	Coenzyme Q10 deficiency 7	AR	14	13
COX20	Mitochondrial complex IV deficiency	AR	4	1
CP*	Aceruloplasminemia, Hypoceruloplasminemia	AR	62	57
CSTB	Epilepsy, progressive myoclonic	AR	19	15
CTBP1			1	1
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy	AR	1	1
CTSA	Galactosialidosis	AR	17	38
CWF19L1	Spinocerebellar ataxia	AR	9	4
CYP27A1	Cerebrotendinous xanthomatosis	AR	69	110
CYP2U1	Spastic paraplegia 56, autosomal recessive	AR	14	19
CYP7B1	Bile acid synthesis defect, Spastic paraplegia 5A, autosomal recessive	AR	18	60
DHPS#		AR
DNAJC19	3-methylglutaconic aciduria	AR	3	6
DNAJC5	Kufs disease,, Ceroid lipofuscinosis, neuronal 4, Parry	AD	2	2
DNMT1	Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsy	AD	9	20
DOCK3	Ataxia	AR	3	5
EBF3	Hypotonia, ataxia, and delayed development syndrome (HADDS)	AD	32	26
EEF2	Spinocerebellar ataxia	AD	1	2
ELOVL4	Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia	AD/AR	13	14
ELOVL5	Spinocerebellar ataxia	AD	2	5
FA2H	Spastic paraplegia	AR	18	51
FBXL4	Mitochondrial DNA depletion syndrome	AR	55	47
FDXR	Auditory neuropathy and optic atrophy	AR	5	19
FGF14	Spinocerebellar ataxia	AD	9	10
FLVCR1	Ataxia, posterior column, with retinitis pigmentosa	AR	9	15
FMR1	Premature ovarian failure, Fragile X syndrome, Fragile X tremor/ataxia syndrome	XL	13	76
FXN*	Friedreich ataxia	AR	13	63
GBA2	Cerebellar ataxia with spasticity	AR	11	22
GFAP	Alexander disease	AD	114	131
GOSR2*	Epilepsy, progessive myoclonic	AR	6	4
GRID2	Spinocerebellar ataxia	AR	11	20
GRM1	Spinocerebellar ataxia	AD/AR	5	17
GSS	Glutathione synthetase deficiency	AR	8	38
HARS2	Perrault syndrome	AR	7	3
HEXB	Sandhoff disease	AR	55	120
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency	AR	18	16
INPP5E	Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)	AR	25	50
IRF2BPL	Neurodevelopmental disorder with hypotonia, seizures, and absent language	AD	9	2
ITM2B	Dementia, familial Danish, Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, Cerebral amyloid angiopathy	AD	3	6
ITPR1	Spinocerebellar ataxia	AD	35	89
KCNA1	Episodic ataxia/myokymia syndrome	AD	24	45
KCNC3	Spinocerebellar ataxia	AD	7	11
KCND3	Brugada syndrome, Spinocerebellar ataxia 19, Spinocerebellar ataxia 22	AD	7	29
KCNJ10	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueduct	AR/Digenic	13	29
KIF1C*	Spastic ataxia	AR	7	17
KIF5A	Spastic paraplegia	AD	18	62
KIF7	Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndrome	AR/Digenic	24	44
LAMA1	Poretti-Boltshauser syndrome	AR	32	40
LARS2	Perrault syndrome, Hydrops, lactic acidosis, and sideroblastic anemia (HLASA)	AR	14	14
LMNB1	Leukodystrophy, demyelinating, adult-onset, autosomal dominant	AD	2	35
LRPPRC	Leigh syndrome, French-Canadian type	AR	55	17
LRSAM1	Charcot-Marie-Tooth disease	AD/AR	15	14
MARS2	Combined oxidative phosphorylation deficiency	AR	8	5
MECR	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)	AR	7	6
MGME1	Mitochondrial DNA depletion syndrome 11	AR	3	7
MKKS	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	AR	21	59
MKS1	Bardet-Biedl syndrome, Meckel syndrome	AR	50	52
MME	Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease, axonal, type 2T	AD/AR	14	21
MRE11A	Ataxia-telangiectasia-like disorder-1	AR	57	56
MSTO1*	Myopathy, mitochondrial, and ataxia	AR	7	8
MT-ATP6	Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrial	Mitochondrial	19
MT-ATP8	Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic	Mitochondrial	4
MT-CO1	Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrial	Mitochondrial	17
MT-CO2	Cytochrome c oxidase deficiency	Mitochondrial	8
MT-CO3	Cytochrome c oxidase deficiency, Leber hereditary optic neuropathy	Mitochondrial	9
MT-CYB		Mitochondrial	69
MT-ND1	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia	Mitochondrial	21
MT-ND2	Leber hereditary optic neuropathy, Mitochondrial complex I deficiency	Mitochondrial	6
MT-ND3	Leber optic atrophy and dystonia, Mitochondrial complex I deficiency	Mitochondrial	7
MT-ND4	Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency	Mitochondrial	11
MT-ND4L	Leber hereditary optic neuropathy	Mitochondrial	2
MT-ND5	Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency	Mitochondrial	19
MT-ND6	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency	Mitochondrial	16
MT-RNR1	Deafness, mitochondrial	Mitochondrial	3
MT-RNR2	Chloramphenicol toxicity/resistance	Mitochondrial	2
MT-TA		Mitochondrial	4
MT-TC	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	Mitochondrial	3
MT-TD		Mitochondrial	1
MT-TE	Diabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes	Mitochondrial	5
MT-TF	Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes	Mitochondrial	7
MT-TG		Mitochondrial	3
MT-TH		Mitochondrial	4
MT-TI		Mitochondrial	7
MT-TK	Myoclonic epilepsy with ragged red fibers, Leigh syndrome	Mitochondrial	5
MT-TL1	Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to	Mitochondrial	14
MT-TL2	Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes	Mitochondrial	5
MT-TM	Leigh syndrome, Mitochondrial multisystemic disorder	Mitochondrial	1
MT-TN	Progressive external ophthalmoplegia, Mitochondrial multisystemic disorder	Mitochondrial	3
MT-TP		Mitochondrial	2
MT-TQ	Mitochondrial multisystemic disorder	Mitochondrial	2
MT-TR	Encephalopathy, mitochondrial	Mitochondrial	2
MT-TS1	Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	Mitochondrial	10
MT-TS2	Mitochondrial multisystemic disorder	Mitochondrial	2
MT-TT		Mitochondrial	5
MT-TV	Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Mitochondrial multisystemic disorder, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes	Mitochondrial	3
MT-TW	Leigh syndrome, Myopathy, mitochondrial	Mitochondrial	8
MT-TY	Mitochondrial multisystemic disorder	Mitochondrial	4
MTFMT	Combined oxidative phosphorylation deficiency 15	AR	15	16
MTPAP	Spastic ataxia	AR	1	2
MTTP	Abetalipoproteinemia	AR	12	69
NDUFAF6	Mitochondrial complex I deficiency, Leigh syndrome	AR	18	10
NDUFS2	Mitochondrial complex I deficiency	AR	5	24
NDUFS4	Mitochondrial complex I deficiency, Leigh syndrome	AR	11	17
NDUFS7	Mitochondrial complex I deficiency, Leigh syndrome	AR	5	7
NDUFS8	Mitochondrial complex I deficiency, Leigh syndrome	AR	13	12
NDUFV1	Mitochondrial complex I deficiency	AR	19	35
NKX2-1	Thyroid cancer, nonmedullary, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Chorea, hereditary benign	AD	27	137
NKX6-2	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	AR	4	8
NOL3	Myoclonus, familial cortical	AD	1	3
NPC1	Niemann-Pick disease	AR	164	472
NPC2	Niemann-pick disease	AR	21	27
NPHP1	Nephronophthisis, Joubert syndrome, Senior-Loken syndrome	AR	19	76
NUBPL	Mitochondrial complex I deficiency	AR	9	10
OFD1	Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndrome	XL	153	160
OPA1	Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14	AD/AR	96	390
OPHN1	Mental retardation, with cerebellar hypoplasia and distinctive facial appearance	XL	28	42
PANK2	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Neurodegeneration with brain iron accumulation	AR	37	181
PAX6	Aniridia, cerebellar ataxia, and intellectual disability (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract with late-onset corneal dystrophy, Morning glory disc anomaly, Foveal hypoplasia, Aniridia, Optic nerve hypoplasia, Peters anomaly	AD	144	550
PDYN	Spinocerebellar ataxia	AD	4	11
PEX10	Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder, Ataxia	AR	34	29
PEX16	Zellweger syndrome, Peroxisome biogenesis disorder	AR	8	13
PEX2	Zellweger syndrome, Peroxisome biogenesis disorder	AR	16	18
PEX3	Zellweger syndrome, Peroxisome biogenesis disorder	AR	4	10
PEX6	Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4B	AR	58	107
PEX7	Refsum disease, Rhizomelic CDP type 1	AR	44	53
PHYH	Refsum disease	AR	12	36
PMM2	Congenital disorder of glycosylation	AR	76	128
PNKD	Paroxysmal non-kinesigenic dyskinesia	AD	5	5
PNKP	Epileptic encephalopathy, early infantile, Ataxia-oculomotor	AR	34	23
PNPLA6	Laurence-Moon syndrome, Boucher-Neuhauser syndrome, Spastic paraplegia 39	AR	26	58
POLG	POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome	AD/AR	89	290
PRKCG	Spinocerebellar ataxia	AD/AR	28	47
PRRT2	Episodic kinesigenic dyskinesia, Seizures, benign familial infantile, 2, Convulsions, familial infantile, with paroxysmal choreoathetosis	AD	42	99
PUM1	Ataxia, Neurodevelopmental disorder	AD	3	11
RNF216*	Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome)	AR	10	14
RORA	Intellectual developmental disorder	AD	6	15
RPGRIP1L#	COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier	AR	39	49
RUBCN	Spinocerebellar ataxia	AR	4	4
SACS	Spastic ataxia, Charlevoix-Saguenay	AR	254	262
SAMD9L	Ataxia-pancytopenia syndrome	AD	4	16
SCYL1	Spinocerebellar ataxia, autosomal recessive 21	AR	12	6
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR	22	52
SETX	Ataxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxia	AD/AR	36	210
SH3TC2	Mononeuropathy of the median nerve, Charcot-Marie-Tooth disease	AR	63	89
SIL1	Marinesco-Sjogren syndrome	AR	14	49
SLC17A5	Sialuria, Finnish (Salla disease), Infantile sialic acid storage disorder	AR	52	54
SLC1A3	Episodic ataxia	AD	2	17
SLC20A2	Basal ganglia calcification, idiopathic, 1	AD	22	71
SLC25A15*	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR	24	36
SLC25A46	Neuropathy, hereditary motor and sensory, type VIB	AR	14	17
SLC2A1	Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome	AD/AR	106	275
SLC52A2	Brown-Vialetto-Van Laere syndrome	AR	27	25
SLC9A1	Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)	AR	2	4
SLC9A6	Mental retardation, syndromic, Christianson	XL	24	28
SNX14	Spinocerebellar ataxia	AR	15	18
SPG11	Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease	AR	162	274
SPG20	Spastic paraplegia (Troyer syndrome)	AR	9	7
SPG7	Spastic paraplegia	AD/AR	69	111
SPTBN2	Spinocerebellar ataxia	AD/AR	18	28
SQSTM1	Paget disease of bone, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Myopathy, distal, with rimmed vacuoles, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	AD/AR	10	97
STUB1	Spinocerebellar ataxia	AD/AR	13	28
STXBP1	Epileptic encephalopathy, early infantile	AD	140	190
SUOX	Sulfocysteinuria	AR	8	29
SYNE1	Spinocerebellar ataxia, autosomal recessive 8	AD/AR	83	136
SYT14#*	Spinocerebellar ataxia	AR	5	3
TCTN1#	Joubert syndrome	AR	6	6
TCTN2	Joubert syndrome, Meckel syndrome	AR	20	15
TCTN3	Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndrome	AR	9	12
TDP1	Spinocerebellar ataxia, with axonal neuropathy	AR	1	3
TDP2	Spinocerebellar ataxia, autosomal recessive 23		2	6
TGM6	Spinocerebellar ataxia	AD	8	24
TMEM138	Joubert syndrome	AR	6	8
TMEM216	Joubert syndrome, Meckel syndrome	AR	17	8
TMEM231	Joubert syndrome, Meckel syndrome	AR	12	19
TMEM237	Joubert syndrome	AR	7	11
TMEM240	Spinocerebellar ataxia	AD	8	6
TMEM67	Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndrome	AR	87	170
TPP1	Spinocerebellar ataxia, Neuronal ceroid lipofuscinosis type 2	AR	75	112
TRAPPC11	Limb-girdle muscular dystrophy	AR	13	17
TRIM32	Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle	AR	13	16
TTBK2	Spinocerebellar ataxia	AD	4	9
TTC19	Mitochondrial complex III deficiency, nuclear type 2	AR	13	10
TTC8	Bardet-Biedl syndrome, Retinitis pigmentosa	AR	5	16
TTPA	Ataxia with isolated vitamin E deficiency	AR	29	30
TUBB4A*	Leukodystrophy, hypomyelinating, Dystonia	AD	39	42
UBA5*	Epileptic encephalopathy, early infantile, 44, Spinocerebellar ataxia, autosomal recessive 24	AR	16	15
UBTF	Neurodegeneration, childhood-onset, with brain atrophy	AD	3	1
UCHL1	Parkinson disease 5, autosomal dominant, Spastic paraplegia 79, autosomal recessive	AD/AR	5	5
VAMP1	Spastic ataxia	AD	3	6
VLDLR	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome	AR	11	24
VPS13D	Spinocerebellar ataxia	AR	9	4
VWA3B	Spinocerebellar ataxia, autosomal recessive 22		1	4
WDPCP	Meckel-Gruber syndrome, modifier, Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly	AR	6	8
WDR81	Dysequilibrium syndrome	AR	8	17
WFS1	Wolfram syndrome, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41	AD/AR	69	362
WWOX	Epileptic encephalopathy, early infantile, Spinocerebellar ataxia	AR	43	45
XRCC1	Spinocerebellar ataxia, autosomal recessive, 26		2	3
ZFYVE26	Spastic paraplegia 15	AR	63	39
ZNF423	Nephronophthisis, Joubert syndrome	AD/AR	10	7

Notes

# A gene marked with this symbol has suboptimal coverage. Fewer than 90% of the gene’s target nucleotides are covered at >20x with mapping quality (MQ>20) reads. Certain exons listed in the Test Limitations section may be excluded if they cannot be reliably sequenced.

* Some or all regions of the gene are duplicated in the genome, which may reduce sensitivity for variant detection. Genes marked with * or # may not be available as single-gene tests.

Abbreviations & References

Gene → HGNC-approved gene symbol.
Inheritance → autosomal dominant (AD), autosomal recessive (AR), mitochondrial (mi), X-linked (XL), X-linked dominant (XLD), X-linked recessive (XLR).
ClinVar → count of pathogenic/likely pathogenic variants (ClinVar).
HGMD → count of variants with possible disease association (HGMD).
Associated phenotypes → compiled from CGD or Mitomap.

Non-coding variants covered by the Comprehensive Genetic Test for Ataxia

Gene	Genomic location HG19	HGVS	RefSeq	RS-number
ADCK3	Chr1:227174508	c.*72dupG	NM_020247.4
ATM	Chr11:108093770	c.-174A>G	NM_000051.3
ATM	Chr11:108094508	c.-31+595G>A	NM_000051.3
ATM	Chr11:108098321	c.-30-1G>T	NM_000051.3	rs869312754
ATM	Chr11:108138753	c.2639-384A>G	NM_000051.3
ATM	Chr11:108141209	c.2839-579_2839-576delAAGT	NM_000051.3
ATM	Chr11:108151710	c.3403-12T>A	NM_000051.3	rs201370733
ATM	Chr11:108158168	c.3994-159A>G	NM_000051.3	rs864622543
ATM	Chr11:108164028	c.4612-12A>G	NM_000051.3
ATM	Chr11:108179837	c.5763-1050A>G	NM_000051.3	rs774925473
ATM	Chr11:108214779	c.8418+681A>G	NM_000051.3	rs748635985
ATP7B	Chr13:52518439	c.3061-12T>A	NM_000053.3
ATP7B	Chr13:52585551	c.-78A>C	NM_000053.3
ATP7B	Chr13:52585596	c.-123C>A	NM_000053.3
ATP7B	Chr13:52585596	c.-128_-124delAGCCG	NM_000053.3
ATP7B	Chr13:52585606	c.-133A>C	NM_000053.3
ATP7B	Chr13:52585683	c.-210A>T	NM_000053.3
ATP7B	Chr13:52585894		NM_000053.3	rs1484840087
ATP7B	Chr13:52585897		NM_000053.3
ATP7B	Chr13:52585915	c.-442G>A	NM_000053.3
BBS1	Chr11:66291105	c.951+58C>T	NM_024649.4
BBS4	Chr15:73001820	c.77-216delA	NM_033028.4	rs113994189
BBS5	Chr2:170354110	c.619-27T>G	NM_152384.2
CACNA1A	Chr19:13317355	c.1500_1504dupCTTTT	NM_001127221.1
CACNA1A	Chr19:13341036	c.5404-13G>A	NM_001127221.1
CACNA1A	Chr19:13617793		NM_001127221.1	rs965852937
CEP290	Chr12:88462434	c.6012-12T>A	NM_025114.3	rs752197734
CEP290	Chr12:88494960	c.2991+1655A>G	NM_025114.3	rs281865192
CEP290	Chr12:88508350	c.1910-11T>G	NM_025114.3
CEP290	Chr12:88534822	c.103-18_103-13delGCTTTT	NM_025114.3
CLN6	Chr15:68506515	c.297+113G>C	NM_017882.2
FMR1	ChrX:147031110	c.*746T>C	NM_002024.5	rs183130936
GSS	Chr20:33537864	c.129+1663A>G	NM_000178.2
GSS	Chr20:33543525	c.-9+5G>A	NM_000178.2
HEXB	Chr5:74014605	c.1243-17A>G	NM_000521.3
HEXB	Chr5:74016442	c.1509-26G>A	NM_000521.3	rs201580118
HEXB	Chr5:74016585	c.1613+15_1613+18dupAAGT	NM_000521.3	rs779273534
HEXB	Chr5:74016926	c.1614-16_1615dupTTCATGTTATCTACAGAC	NM_000521.3	rs756912360
HEXB	Chr5:74016929	c.1614-14C>A	NM_000521.3	rs201448394
KCNJ10	Chr1:160039811	c.-1+1G>T	NM_002241.4	rs796052606
MTTP	Chr4:100512792	c.619-5_619-2delTTTA	NM_000253.2	rs755155385
MTTP	Chr4:100522736	c.1237-28A>G	NM_000253.2
NDUFAF6	Chr8:96046914	c.298-768T>C	NM_152416.3	rs575462405
NDUFAF6	Chr8:96048588	c.420+784C>T	NM_152416.3	rs749738738
NPC1	Chr18:21132700	c.1554-1009G>A	NM_000271.4
NPC1	Chr18:21137182	c.882-28A>T	NM_000271.4
NPC1	Chr18:21137182	c.882-28A>G	NM_000271.4
NPC1	Chr18:21137182	c.882-28A>G/T	NM_000271.4
OFD1	ChrX:13768358	c.935+706A>G	NM_003611.2	rs730880283
OFD1	ChrX:13773245	c.1130-22_1130-19delAATT	NM_003611.2	rs312262865
OFD1	ChrX:13773249	c.1130-20_1130-16delTTGGT	NM_003611.2
OPA1	Chr3:193334932	c.449-34dupA	NM_130837.2
OPA1	Chr3:193374829	c.2179-40G>C	NM_130837.2
PANK2	Chr20:3903981	c.*40G>C	NM_153638.2
PAX6	Chr11:31685945	c.*125537G>T	NM_000280.4	rs606231388
PAX6	Chr11:31812434	c.1033-42_1033-26delATGTGTTCCTCAGTAACinsG	NM_000280.4
PAX6	Chr11:31816377	c.524-41T>G	NM_000280.4
PAX6	Chr11:31823338	c.142-14C>G	NM_000280.4	rs1131692291
PAX6	Chr11:31828391	c.-52+5delG	NM_000280.4
PAX6	Chr11:31828391	c.-52+3_-52+6delAAGTinsTG	NM_000280.4
PAX6	Chr11:31828392	c.-52+3_-52+4delAA	NM_000280.4
PAX6	Chr11:31828395	c.-52+1delG	NM_000280.4
PAX6	Chr11:31828396	c.-52+1G>A	NM_000280.4
PAX6	Chr11:31828456	c.-115_-112delACTA	NM_000280.4	rs1011844558
PAX6	Chr11:31828461	c.-118_-117delTT	NM_000280.4
PAX6	Chr11:31828469	c.-125dupG	NM_000280.4
PAX6	Chr11:31828474	c.-128-2delA	NM_000280.4	rs1131692282
PAX6	Chr11:31828474	c.-128-1G>T	NM_000280.4
PAX6	Chr11:31832372	c.-138_-129+3delCCTCATAAAGGTG	NM_000280.4
PAX6	Chr11:31832374	c.-129+2T>A	NM_000280.4
PAX6	Chr11:31832375	c.-129+1G>A	NM_000280.4
PEX6	Chr6:42933858	c.2301-15C>G	NM_000287.3	rs267608236
PEX6	Chr6:42933952	c.2300+28G>A	NM_000287.3	rs267608237
PEX7	Chr6:137143759	c.-45C>T	NM_000288.3	rs267608252
PMM2	Chr16:8891573		NM_000303.2
PMM2	Chr16:8898599	c.179-25A>G	NM_000303.2	rs760689221
PMM2	Chr16:8926102	c.640-15479C>T	NM_000303.2	rs1258107584
PMM2	Chr16:8941558	c.640-23A>G	NM_000303.2
PNKP	Chr19:50364799	c.1387-33_1386+49delCCTCCTCCCCTGACCCC	NM_007254.3	rs752902474
PRRT2	Chr16:29825620	c.*345G>A	NM_001256443.1
SERAC1	Chr6:158576548	c.92-165C>T	NM_032861.3
SERAC1	Chr6:158576622	c.92-239G>C	NM_032861.3
SH3TC2	Chr5:148406329	c.2873-14T>A	NM_024577.3
SH3TC2	Chr5:148422415	c.386-15G>A	NM_024577.3
SIL1	Chr5:138283180	c.1030-18G>A	NM_022464.4	rs769052639
SLC20A2	Chr8:42328683	c.289+937G>A	NM_006749.4
SLC2A1	Chr1:43395462	c.680-11G>A	NM_006516.2
SLC2A1	Chr1:43424429	c.-107G>A	NM_006516.2
SLC52A2	Chr8:145582843	c.-110-1G>A	NM_024531.4
STUB1	Chr16:732729	c.*240T>C	NM_005861.2
SYNE1	Chr6:152640163	c.16237-13C>G	NM_182961.3
SYNE1	Chr6:152643033	c.15918-12A>G	NM_182961.3	rs606231134
TMEM231	Chr16:75575364	c.824-11T>C	NM_001077416.2
TPP1	Chr11:6637752	c.887-18A>G	NM_000391.3
TTC19	Chr17:15903121	c.-42G>T	NM_017775.3	rs769078093
WFS1	Chr4:6271704	c.-43G>T	NM_006005.3

Legend

HGVS: Human Genome Variation Society nomenclature used to describe sequence variants (e.g., c.2678-15C>A).
RefSeq: Reference sequence accession (transcript) used for variant annotation (NCBI RefSeq, e.g., NM_000138.4).
RS-number: dbSNP reference ID (rsID) for the variant when available.
Genomic location (HG19): Chromosomal coordinates based on the human genome build GRCh37/hg19.

Genetic testing for this gene is performed by taking a blood sample or by taking genetic material from inside the cheeks (with a swab), and can be done:

By taking the sample at Diagnostiki Athinon. Book your appointment in real-time and purchase the test online
By taking the sample at home. We send you all the necessary collection materials to your home via courier. The courier also returns the sample to the laboratory. Purchase the test online

Test Strengths

The test is characterized by the following strengths:

Analysis is performed in a CAP-accredited laboratory with the participation of CLIA-certified personnel.
Advanced sequencing technologies, high-performance target enrichment methods, and precise bioinformatics pipelines ensure superior analytical performance.
Gene panels are carefully designed to be clinically effective and scientifically validated.
In some panels, the entire mitochondrial genome is included (see Panel Content section).
Approximately 2,000 non-coding disease-causing variants are covered in the clinical-grade NGS assay (see Non-coding disease-causing variants covered by this panel in the Panel Content section).
A rigorous variant classification system is applied.
A systematic interpretation workflow, supported by proprietary software, enables accurate and traceable processing of NGS data.
Comprehensive and clinically meaningful reports are provided.

Test Limitations

Specific technical and biological limitations apply:

The following exons are excluded from the panel due to insufficient coverage by high-quality sequencing reads: ALDH5A1 NM_170740.1:5, BEAN1 NM_001197224.4:4, DHPS NM_001206974.2:1, RPGRIP1L NM_015272.5:23, SYT14 NM_001146261.3:3, TCTN1 NM_001173976.2:2;NM_024549.6:6.
Genes with suboptimal coverage are marked with a number sign (#), while those with partial or complete segmental duplications overlapping UCSC pseudogene regions are marked with an asterisk (*).
A gene is considered to have suboptimal coverage when more than 90% of its target nucleotides are not covered at a depth of greater than 20x with mapping quality score (MQ > 20) reads. In such cases, detection of variants may be limited.

This test does not detect:

Complex inversions
Gene conversions
Balanced translocations
Repeat expansion disorders, unless otherwise specified
Non-coding variants beyond ±20 base pairs from the exon–intron boundary, unless otherwise indicated
The complete mitochondrial genome in all panels (see Panel Content section

This test may not reliably detect:

Low-level mosaicism in nuclear genes (variants with a minor allele fraction of ~14.6% are detected with 90% probability)
Stretches of mononucleotide repeats
Low-level heteroplasmy in mtDNA (>90% detected at 5% level)
Insertions or deletions larger than 50 bp
Single-exon deletions or duplications
Variants within pseudogene regions or duplicated genomic segments
Disease-causing mtDNA variants not present in blood; in such cases, post-mitotic tissue (e.g., skeletal muscle) may be required to establish a molecular diagnosis

For further details, please refer to the Bioinformatics & Performance section.

Bioinformatics

The target region for each gene encompasses the coding exons as well as ±20 base pairs from the exon–intron boundaries. In addition, the panel may include non-coding and regulatory variants, as listed in the “Non-coding variants covered by the panel” section. Specific regions of certain gene(s) may be excluded from analysis if noted in the “Test limitations” section. When the test includes the mitochondrial genome, the target region also comprises the complete set of mitochondrial genes.

Sequencing data is processed through a proprietary analysis and annotation pipeline that integrates state-of-the-art algorithms and industry-standard software solutions. Multiple quality control steps are embedded throughout the workflow to ensure the accuracy, validity, and consistency of the results. The pipeline is optimized to maximize sensitivity without compromising specificity.

For variant interpretation, the system incorporates data from multiple reference populations and mutation databases, including (but not limited to) the 1000 Genomes Project, gnomAD, ClinVar, and HGMD. In silico tools such as SIFT, PolyPhen, and MutationTaster are also applied to support the classification of missense variants.

All findings are summarized in a clear and detailed clinical report. This report includes sequencing quality metrics, gene-level coverage information, and highlights any regions where coverage is limited (<20x for nuclear genes and <1000x for mtDNA, when applicable). This ensures transparency and supports accurate clinical decision-making.

Test Performace

The genes included in this panel have been carefully selected based on evidence from scientific literature, mutation databases, and accumulated clinical expertise.

All panels are derived from a high-quality, clinical-grade NGS assay. Details regarding the detection of different types of genetic alterations are provided in the sequencing and detection performance table (see Table).

The assay has been validated for several sample types, including EDTA blood, isolated DNA (excluding DNA from formalin-fixed paraffin-embedded tissue), saliva, and dried blood spots (filter cards). These sample types were chosen to maximize the probability of obtaining high-quality DNA. The diagnostic yield may vary depending on the assay performed, the referring healthcare professional, the hospital, and the country in which the test is conducted. The Plus Analysis further enhances the chance of reaching a genetic diagnosis, as large deletions and duplications cannot be detected by sequencing alone. This approach integrates both sequencing and deletion/duplication (copy number variant, CNV) analysis.

The performance metrics shown below are based on initial validation studies at an accredited clinical laboratory, with equivalent results confirmed across additional laboratory sites.

Performance of a high-quality, clinical-grade NGS sequencing assay for panels

Variant type	Sensitivity % (TP/(TP+FN))	Specificity %
Single-nucleotide variants (SNVs)	99.89% (99,153/99,266)	>99.9999%
Insertions, deletions, and indels by sequence analysis
1-10 bps	99.2% (7,745/7,806)	>99.9999%
11-50 bps	99.13% (2,524/2,546)	>99.9999%
Copy number variants (exon level dels/dups)
1 exon deletion (het)	100% (20/20)	NA
1 exon deletion (homo)	100% (5/5)	NA
1 exon deletion (het or homo)	100% (25/25)	NA
2-7 exon deletion (het or homo)	100% (44/44)	NA
1-9 exon duplication (het or homo)	75% (6/8)	NA
Simulated CNV detection
5 exons del/dup	98.7%	100.00%
Microdeletions/-duplications (n=37)
Size range (0.1–47 Mb)	100% (25/25)

Coverage metrics

Mean sequencing depth	143X
Nucleotides with >20x coverage (%)	99.86%

Performance of Mitochondrial Sequencing Assay

Variant type/condition	Sensitivity %	Specificity %
Analytic validation (n=4 samples)
SNVs Heteroplasmic (45-100%)	100% (50/50)	100%
SNVs Heteroplasmic (35-45%)	100% (87/87)	100%
SNVs Heteroplasmic (25-35%)	100% (73/73)	100%
SNVs Heteroplasmic (15-25%)	100% (77/77)	100%
SNVs Heteroplasmic (10-15%)	100% (74/74)	100%
SNVs Heteroplasmic (5-10%)	100% (3/3)	100%
SNVs Heteroplasmic (<5%)	50% (2/4)	100%
Clinical validation (n=76 samples)
SNVs Heteroplasmic (45-100%)	100% (1940/1940)	100%
SNVs Heteroplasmic (35-45%)	100% (4/4)	100%
SNVs Heteroplasmic (25-35%)	100% (3/3)	100%
SNVs Heteroplasmic (15-25%)	100% (3/3)	100%
SNVs Heteroplasmic (10-15%)	100% (9/9)	100%
SNVs Heteroplasmic (5-10%)	92.3% (12/13)	99.98%
SNVs Heteroplasmic (<5%)	88.9% (48/54)	99.93%
Indels 1-10bp (het 45-100%)	100% (32/32)	100%
Indels 1-10bp (het 5-45%)	100% (3/3)	100%
Indels 1-10bp (het <5%)	100% (5/5)	99.997%
Simulation data
Indels 1-24bp Homoplasmic (100%)	100% (17/17)	99.98%
Indels 1-24bp Heteroplasmic (50%)	100% (17/17)	99.99%
Indels 1-24bp Heteroplasmic (25%)	100% (17/17)	100%
Indels 1-24bp Heteroplasmic (20%)	100% (17/17)	100%
Indels 1-24bp Heteroplasmic (15%)	100% (17/17)	100%
Indels 1-24bp Heteroplasmic (10%)	94.1% (16/17)	100%
Indels 1-24bp Heteroplasmic (5%)	94.1% (16/17)	100%
CNVs (artificial mutations; n=1500)
Homoplasmic (100%) 500bp–5kb	100%	100%
Heteroplasmic (50%) 500bp–5kb	100%	100%
Heteroplasmic (30%) 500bp–5kb	100%	100%
Heteroplasmic (20%) 500bp–5kb	99.7%	100%
Heteroplasmic (10%) 500bp–5kb	99.0%	100%

Mitochondrial assay coverage metrics

Metric	Mean of medians	Median of medians
Mean sequencing depth MQ0 (clinical)	18224X	17366X
Nucleotides with >1000x MQ0 coverage (%)	100%
ρ0 cell line (=no mtDNA), mean sequencing depth	12X

Comprehensive clinical reports are delivered, designed to provide healthcare professionals with meaningful and actionable insights. Clinical interpretation requires a solid understanding of both clinical genetics and genetic principles. Reports are prepared by teams of molecular geneticists, medical experts, and other highly experienced professionals, who evaluate identified variants in the context of the patient’s phenotypic information provided in the requisition form.

The goal is to ensure that reports are clinically valuable and understandable to all healthcare providers, regardless of their level of training in genetics and genetics-related fields. Variant classification forms the foundation of clinical interpretation and guides patient management decisions. Classifications follow the ACMG 2015 guidelines. Sequence and copy number variants classified as pathogenic, likely pathogenic, or of uncertain significance (VUS) are confirmed using bidirectional Sanger sequencing or orthogonal methods such as qPCR/ddPCR whenever NGS quality metrics do not meet strict thresholds for a true positive call.

Each report includes tables for sequence and copy number variants, presenting essential information such as genomic coordinates, HGVS nomenclature, zygosity, allele frequencies, in silico predictions, phenotypic correlations, and variant classification. In addition, detailed descriptions are provided for the variant, the gene, and the related phenotypes, covering the gene’s role in human disease, mutation spectrum, variation in population cohorts, and links to associated conditions. References, abstracts, and variant databases are also cited, enabling healthcare providers to further evaluate reported findings if desired.

Reports are structured into two sections: primary findings and additional findings.

The primary findings consist of variants known to cause disease or rare variants that may explain the patient’s phenotype. The conclusion summarizes all available evidence and presents the rationale for classification.

Additional findings include variants that are not currently sufficient to explain the patient’s phenotype, based on existing knowledge. Examples include heterozygous variants in autosomal recessive genes, VUS in autosomal dominant genes (when a pathogenic or likely pathogenic variant already explains the phenotype), or risk alleles in genes included in the panel.

The identification of pathogenic or likely pathogenic variants in dominant disorders, or biallelic variants in recessive disorders, is considered molecular confirmation of the clinical diagnosis. In such cases, family testing may assist in risk assessment. Variants of uncertain significance are not recommended for patient management or family risk stratification. Genetic counseling is strongly advised.

Interpretation teams routinely analyze millions of variants across thousands of cases of rare diseases. With each case, internal knowledge of variant–phenotype relationships is enriched, enabling continuous refinement of classifications. As new evidence becomes available, previously reported variants may be reclassified. If a variant initially reported as a primary or secondary finding is later reclassified (for example, from VUS to pathogenic/likely pathogenic, or from pathogenic/likely pathogenic to VUS, likely benign, or benign), an updated statement is issued to the original ordering healthcare provider at no additional cost.

Step 1

Book an appointment and buy the test online

Select from the most complete range test of Prevention, Andrology and Diagnostics, book an appointment in real time and purchase them online.

Step 2

Sampling

Visit the certified laboratory of Diagnostiki Athinon on the date and time you have chosen, to perform the sampling.

Step 3

Receiving the test results

Download your test results easily and securely anytime you want by logging in to your personal account.