Product Name

Application

Region

ME011-MMR

Mismatch repair genes (MMR)

MLH1, MSH2, MSH6, MLH3, MSH3, PMS2, MGMT

ME012-MGMT-IDH1-IDH2

Gliomas

MGMT, IDH1, IDH2

ME029-FMR1/AFF2

Fragile X

FMR1, AFF2

P015-MECP2

RETT syndrome

MECP2, Xq28

P022 -PLP1

Pelizaeus-Merzbacher disease (PMD)

PLP1 Xq22

P025-Canavan

Canavan disease

ASPA, 17p13

P041-ATM-1 CE

Ataxia-Telangiectasia (AT)

ATM 11q23

P042-ATM-2 CE

Ataxia-Telangiectasia (AT)

ATM 11q23

P044-NF2

Neurofibromatosis type 2 (NF2)

NF2 22q12

P046-TSC2

Tuberous Sclerosis

TSC2 16p13.3

P049-SLC6A8 - ABCD1

Creatine transporter, x-linked

SLC6A8, Xq28

P051-Parkinson mix 1

Parkinson disease, familial

PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36

P052-Parkinson mix 2

Parkinson disease, familial

PARK2 6q25.2, UCHL1 4p14, GCH1 14q22.1, LRRK2 12q12

P059-Dystonia

Dystonia

PRKRA; THAP1; TOR1A; ATP1A3

P061-Lissencephaly

Lissencephaly

LIS1, DCX, POMT1, POMGnT1, FLNA

P063-FHIT-WWOX

Diverse tumour types, epileptic encephalopathy

FHIT (3p14.2) and WWOX (16q23.1)

P071-LMNB1-PLP1-NOTCH3

Leukodystrophy

LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12

P075-TCF4-FOXG1

Pitt-Hopkins syndrome, Congential variant of Rett syndrome

TCF4, FOXG1

P081-NF1 mix 1

Neurofibromatosis

NF1 17q11.2

P082-NF1 mix 2

Neurofibromatosis

NF1 17q11.2

P088-Oligodendroglioma 1p-19q

Oligodendroglioma

1p, 19q, IDH1/2, CDKN2A/2B

P098-Wilson

Wilson disease

ATP7B 13q14.3

P099-GCH1-TH-SGCE

Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome

TH 11p15.5, GCH114q22, SGCE 7q21

P103-DPYD

Dihydropyrimidine dehydrogenase (DPYD) deficiency

DPYD 1p22

P105-Glioma-2

Glioma, malignant

EGFR, TP53, PTEN + various other

P107-Neurometabolic

Neurometabolic disorders

ASPA, MLC1, MLYCD, D2HGDH, L2HGDH

P120-PANK2/PLA2G6

Neurodegeneration with brain iron accumulation (NBIA)

PANK2 20q13, PLA2G6 22q13

P122-NF1-area

Neurofibromatosis

NF1 17q11.2

P124-TSC1

Tuberous Sclerosis

TSC1 9q34

P130-CCM mix-1

Cerebral Cavernous Malformations (CCM)

CCM 7q21

P131-CCM mix-2

Cerebral Cavernous Malformations (CCM)

CCM 7q21

P137-SCN1A

Epilepsy

SCN1A 2q24.3

P138-SLC2A1-STXBP1

Glut1 deficiency syndrome

SLC2A1, STXBP1

P165-HSP

Spastic paraplegia, hereditary (HSP)

SPG3A 14q21, SPAST 2p22

P166-KCNQ2

Benign familial neonatal convulsion (BFNC)

KCNQ2 20q13.33

P170-APP

Alzheimer disease, early-onset

APP 21q21.3

P187-HPE

Holoprosencephaly (HPE)

PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11

P189-CDKL5

Rett syndrome, atypical

CDKL5 Xp22, NTNG1 1p13.3, ARX Xp21.3

P197-KCNQ3

Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)

KCNQ3 8q24.22; CHRNA4 20q13.33; EPM2A 6q24.3; NHLRC1 6p22.3; CHRNB2 1q21.3; KCNQ1 11p55.5-4

P199-HEXA

Tay-Sachs Disease

HEXA 15q23

P211-HSP region

Hereditary Spastic Paraplegias (HSPs) region

SPAST 2p22, NIPA1 15q11

P213-HSP mix-2

Hereditary spastic paraplegias (HSPs)

REEP1 (SPG31) 2p11.2, SPG7 16q24.3

P226-SDH

Paragangliomas (PGL)

SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3

P251-NB mix 1

Neuroblastoma

1p36, 3p22/3p21.3 and 11q23

P252-NB mix 2

Neuroblastoma

2p24.1/MYCN, 2q33, 17p13/TP53, 17q

P253-NB mix 3

Neuroblastoma

Chromosomes 4, 7, 9, 12, 14

P254-PSEN1

Alzheimer's disease (AD)

PSEN1 14q24.2

P267-Dandy-Walker

Dandy-Walker Malformation (DWM)

ZIC1, ZIC4 3p2, VLDLR 9p24

P274-SLC6A5/GLRA1/GLRB

Startle disease, Hyperekplexia

GLRB 4q32.1, GLRA1 5q33.1, SLC6A5 11p15.1

P275-MAPT-GRN

Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy

MAPT 17q21

P279-CACNA1A

Episodic ataxia 2, Familial hemiplegic migraine

CACNA1A

P295-SPRED1

SPRED1

SPRED1 15q14

P301-Medulloblastoma mix 1

Medulloblastoma

Chr. 6, Chr. 14, Chr. 16, Chr. 17.

P302-Medulloblastoma mix 2

Medulloblastoma

Chr. 2, Chr. 3, Chr. 7, Chr. 9

P303-Medulloblastoma mix 3

Medulloblastoma

Chr. 1, Chr. 4, Chr. 5, Chr. 8, Chr. 10, Chr. 20

P306-SPG11

Hereditary spastic paraplegia (HSP or SPG)

SPG11 or KIAA1840 15q21.1

P307-SEPT9

Hereditary neuralgic amyotrophy (HNA)

SEPT9 17q25.3

P316-Recessive Ataxias

Recessive Ataxias

SETX, APTX, FXN.

P326-LARGE

Walker-Warburg Syndrome

LARGE, FKTN, POMT2

P330-PCDH19

Epilepsy (EFMR)

PCDH19

P336-UBE3A

Angelman

UBE3A, MTHFR, GABRB3

P337-TSC2

Tuberous sclerosis

TSC2 gene, 16p13.3

P339-SHANK3

Autism Spectrum Disorder

SHANK3 22q13.33

P343-Autism-1

Autism

15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13

P348-ATP1A2-CACNA1A

Migraine

1q23, 19p13

P355-Microcephaly

Primary Microcephaly

MCPH1, ASPM, CDK5RAP2, CENPJ, STIL

P370-BRAF-IDH1-IDH2

(basic research)

Gliomas

BRAF, IDH1, IDH2, FGFR1, MYB, MYBL1, CDKN2A

P388-AGS

Aicardi-Goutieres Syndrome

RNASEH2A, B & C genes, TREX1, SAMHD1

P395-MEF2C-FOXG1

mental retardation

MEF2C 5q14.3, FOXG1 14q12

P396-SHANK2

Autism-spectrum disorder

SHANK2 11q13.3

P398-CASK

X-linked mental retardation and MICPCH

CASK

P408-ADLTE-LGI1

Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADLTE

ADAM22, GPR98, KCNA1, KCNA4, KCNAB1, LGI1, PDYN

P410-GRIN2A GRIN2B

epilepsy, mental retardation

16p13.2 GRIN2A, 12p13.1 GRIN2B

P411-Porphyria mix 1

Porphyrias

ALAD, HMBS, PPOX

P412-Porphyria mix 2

Porphyrias

FECH, UROS, UROD, CPOX

P427-PDHA1

Leigh Syndrome

X-chromosome

P429-SDHA-MAX

Paraganglioma and pheochromocytoma

5p15.3 and 14q23.3

P437-Familial MDS-AML

Familial MDS-AML

RUNX1, CEBPA, GATA2, TERT, TERC

P441-SACS

ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay)

3q12.12

P446-GALC

Krabbe Disease

14q31.3

P447-HPRT1

Lesch-Nyhan syndrome

Xq26.1

P455-LZTR1

Schwannomatosis

22q11.21

P470-NCL

Neuronal Ceroid Lipofuscinoses/Batten Disease

01p34.2, 08p23.3, 11p15.4, 15q23, 16p11.2

P471-EOFAD

Early-Onset Familial Alzheimer's Disease (EOFAD)

01q42.13; 14q24.2; 21q21.3