Ataxia NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Ataxia
Cerebellar Ataxia
Episodic Ataxia
Spinocerebellar Ataxia

The Ataxia Panel examines genes associated with hereditary ataxic conditions, including both late-onset and early-onset ataxias. This panel does not include repeat expansion analysis (see Ataxia Repeat Expansion Analysis). 
Patients with a known or suspected family history of ataxia and presentation of symptoms consistent with hereditary ataxia. Signs of ataxia include incoordination of gait, hands, feet, and eye movement. This test is designed to detect individuals with a germline pathogenic variant. It does not include repeat expansion analysis.
Identification of the specific genetic etiology can help confirm a clinical diagnosis and/or determine medical management for a patient. It can also provide information about clinical course of disease and illuminate potential risk for close relatives of the patient.

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3 - 5 weeks
Call for details
ABCB7, ABHD12, ACO2, AFG3L2, AHI1, ALDH5A1, ALS2, ANO10, APTX, ARL13B, ATCAY, ATL1, ATM, ATP8A2, B9D1, BBS1, BBS12, BSCL2, C12orf65, C19orf12, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CEP41, CLCN2, CLN5, CLPP, COQ2, COQ6, COQ8A, COQ9, COX20, CPLANE1, CSTB, CWF19L1, CYP27A1, CYP7B1, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, FA2H, FBXL4, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GFAP, GJC2, GOSR2, GRID2, GRM1, GSS, HEPACAM, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, MLC1, MRE11, MTPAP, NDUFS1, NDUFS7, NOL3, NOTCH3, OFD1, OPA1, OPA3, OPHN1, PAX6, PDSS1, PDSS2, PDYN, PEX10, PEX7, PHYH, PLP1, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRKCG, PRRT2, RPGRIP1L, RRM2B, RUBCN, SACS, SETX, SIL1, SLC16A2, SLC1A3, SLC2A1, SLC52A2, SLC52A3, SLC9A6, SNX14, SPAST, SPG11, SPG7, SPR, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TTBK2, TTPA, TUBB4A, TWNK, TYMP, VAMP1, VLDLR, WASHC5, WDR73, WDR81, WFS1, WWOX, ZNF423 ( 150 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Notes
CSTBThe current testing method does not assess repeat expansions in this gene.
CPT Code 81404, 81406, 81407, 81479x2

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.