Background:
Neurological disorders include a large group of conditions with genetic and phenotypic heterogeneity and often have overlapping clinical features, such as intellectual disability, seizures, microcephaly, motor disability, brain malformations (lissencephaly, molar tooth sign), vision loss, speech difficulties, and respiratory failure. Dystonia disorders are neurologic conditions causing involuntary muscle contractions. Any portion of the body can be affected by these contractions and may cause abnormal posturing or uncontrolled movements or tremors. Most conditions are inherited in autosomal dominant manner but can be autosomal recessive or X-linked. This next-generation sequencing test is designed to detect mutations in the coding region of 78 genes associated with Dystonia or syndromes with dystonic features.
Reasons for Referral:
- Dystonic features and abnormal movements
- Positive family history
- Carrier status
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.
Dystonia Panel (78 genes):
ADAR, AFG3L2, AP1S2, APTX, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, C19orf12, CACNA1A, CHMP2B, CP, CYP27A1, DCAF17, DDC, DLAT, DRD2, DRD5, EARS2, ERCC6, FA2H, FASTKD2, FBXO7, FOXG1, FOXRED1, GAMT, GCDH, GCH1, HPRT1, KCNQ2, L2HGDH, MAT1A, MCOLN1, MMADHC, MPV17, MR1, NPC2, PANK2, PARK2, PDHX, PINK1, PLA2G6, PLP1, PNKD, PRRT2, PSEN1, PTEN, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHAF1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC46A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREM2, TREX1, VPS13A, WDR45
Methodology:
Specimen Requirements:
Test Performed (Days):
Turn Around Time:
Shipment Sensitivity Requirements:
References:
- Genereviews: Dystonia Overview http://www.ncbi.nlm.nih.gov/books/NBK1155/
Additional Info: