We have updated several neurological panels, including Charcot-Marie-Tooth Disease, Frontotemporal Dementia, and Parkinson’s Disease. Please see https://www.asperbio.com/asper-neurogenetics/ for more information.
CMT panel
Published 21/08/2017Charcot-Marie-Tooth Disease NGS panel has been upgraded with the following genes: ARSA, HINT1, HSPB3, KIF1A, NGF, SCN9A, SLC5A7, SPTLC1, SPTLC2, TFG, TYMP, WNK1.
The new version of the test covers the analysis of 67 genes. Full list of genes is available on www.asperbio.com/cmt.
Charcot-Marie-Tooth Disease
Published 01/06/2015Charcot-Marie-Tooth Disease
NGS panel
| Genes (full coding region): |
AARS1, ABHD12, AIFM1, ARHGEF10, ARSA, ATP1A1, B4GALNT1, BSCL2, CACNA1S, C12orf65, COX6A1, CLCN1, CPT2, CTDP1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GBA2, GBE1, GARS1, GDAP1, GJB1, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS1, KCNJ2, KIF1A, KIF5A, KIF1B, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NGF, NTRK1, PDK3, PLEKHG5, PMP22, POLG, PPOX, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN4A, SCN9A, SCN10A, SCN11A, SEPTIN9, SETX, SH3TC2, SLC5A7, SLC52A1, SLC52A2, SLC52A3, SORD, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTPA, TTR, TYMP, VCP, WARS1, WNK1, YARS1 |
| Non-coding variants: | List of non-coding variants covered by the panel |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Deletion/duplication analysis
| Genes: | EGR2, GARS1, GDAP1, GJB1, HSPB1, HSBP8, KIF1B, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX, RAB7A, SBF2, SH3TC2, SPTLC1 |
| Lab method: | MLPA |
| TAT: | 4-6 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
2,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
Charcot-Marie-Tooth disease (CMT) also known as Charcot–Marie–Tooth neuropathy is a heterogeneous group of disorders characterized by distal muscle weakness and atrophy and loss of sensation in the feet and/or hands. Usually, the initial symptoms are foot deformities, such as high arches and hammertoes and “inverted champagne bottle” appearance of the lower parts of the legs. Weakness and muscle atrophy may occur in the hands as the disease progresses. Other symptoms of the disease may include hearing loss and scoliosis.
Prevalence of CMT hereditary neuropathy is about 1:2500.
Based on clinical manifestations and affected genes, CMT can be divided into types and subtypes. The most common form of CMT is Charcot-Marie-Tooth type 1A caused by duplication of or mutation in the PMP22 gene.
CMT neuropathy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Charcot-Marie-Tooth Disease and Menkes Disease tests now available
Published 12/12/2014As we highly appreciate our customers’ feedback on our services, we have added two new tests to the testing menu based on the results of the resent customer survey. The Charcot-Marie-Tooth Disease test uses massively parallel sequencing to analyze as many as 30 disease-associated genes. This approach allows distinguishing various forms of the disease and therefore preventing serial single gene testing. Deletion/duplication analysis of the PMP22 gene in the 17p11.2-12 region is also available. The duplications in this region could account for approximately 75 % of cases.
For Menkes disease testing we use Sanger sequencing to detect disease-causing mutations in the ATP7A gene.