Test Code: PNL088

Genes: ACTB, AFG3L2, ANO3, APTX, ARSA, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, C19orf12, CACNA1A, CHMP2B, CP, CSF1R, CYP27A1, DCAF17, DCTN1, DNAJC6, FBXO7, FTL, GBA, GCH1, GFAP, GNAL, GRN, GTPBP2, HPCA, KIAA1161, KMT2B, LRRK2, LYST, MAPT, NKX2-1, PANK2, PARK7, PDGFB, PDGFRB, PINK1, PLA2G6, PNKD, PPP2R5D, PRKN, PRKRA, PRNP, PRRT2, RAB39B, RNF216, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SNCA, SPG11, SPR, SYNJ1, TBK1, THAP1, TIMM8A, TOR1A, TUBB4A, VPS13A, VPS16, VPS35, WDR45, XPR1, ARX, AUH, CHCHD2, CIZ1, DDC, EIF4G1, FOXG1, GLB1, PDE2A, PLP1, PTS, QDPR, TAF1, UCHL1, VAMP2, VPS41, XK, YY1, ATN1, ATXN1, ATXN2, ATXN3, C9orf72, CACNA1A, CSTB, JPH3, PPP2R2B, TBP (95 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time:

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 2000

Description:
This comprehensive genetic test analyzes 95 genes known to be associated with dystonias (early, childhood, and adult onset), chorea, and related movement disorders using next-generation sequencing (NGS) technology. Movement disorders are a diverse group of neurological conditions that can present with abnormal muscle contractions, involuntary movements, or impaired motor control. Identifying an underlying genetic cause can be critical for accurate diagnosis, prognosis, and management.