Background:
Movement disorders are a group of neurological conditions which includes ataxia, dystonia, and seizures. Clinical symptoms may manifest in early childhood and into as an adult. Phenotypes in this group of disorders are involuntary muscle movements and muscle contractions. This can vary in spectrum from subtle repetitive movements, worsening hand control, abnormal posture, gait disturbance and seizures. These effects may also cause sleep disorders, depression and mental stress. Many of these conditions follow an autosomal recessive pattern but also be X-linked or autosomal dominant with variable penetrance. This next-generation sequencing test assesses the coding regions of 92 genes associated with movement disorders.
Reasons for Referral:
- Clinical symptoms of ataxia, dystonia, seizures or other involuntary muscle movements.
- Carrier testing
- Positive family history
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.
Movement Disorder panel genes:
ADAR, AFG3L2, AP1S2, APTX, ARSA, ARX*, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, CACNA1A, C19orf12, CHMP2B, CP, CSF1R, CYP27A1, DCAF17, DCTN1, DDC, DLAT, DRD2, DRD5, EARS2, ERCC6, FA2H, FASTKD2, FBXO7, FOXRED1, FTL, FOXG1, FUCA1, GAMT, GBA, GCDH, GCH1, HPRT1, KCNQ2, KIF1A, L2HGDH, LRRK2, MAPT, MAT1A, MCOLN1, MMADHC, MPV17, MR1, NPC2, PANK2, PARK2, PARK7, PDHX, PINK1, PLA2G6, PLP1, PNKD, POLG, PRRT2, PSEN1, PTEN, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHAF1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC46A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREM2, TREX1, TRIM32, VPS13A, VPS35, WDR45
*
ARX gene complete coverage and expansions in the polyalanine tract not available.
Methodology:
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