Ataxia NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Ataxia
Cerebellar Ataxia
Episodic Ataxia
Spinocerebellar Ataxia

Ataxia is the collective term for disorders of the nervous system that affect coordination of voluntary movements, resulting in difficulties with balance, speech, and fine motor skills. Symptoms of ataxia vary and patients may have difficulties with chewing and swallowing, slurred speech, abnormal gait, poor coordination, and heart problems. Depending on the etiology, ataxia may be progressive and symptoms may begin at any time from childhood to adulthood. There is no cure for ataxia at this time, but treatment can help manage symptoms and improve quality of life. Treatment plans often include speech and physical therapy programs.

The Ataxia NGS Panel does not include repeat expansion analysis (see Ataxia Repeat Expansion Analysis). This panel includes a variety of non-syndromic and syndromic ataxias following X-linked, autosomal dominant, and autosomal recessive inheritance patterns. It includes childhood onset conditions, such as Joubert syndrome and Bardet-Biedl syndrome and adult onset conditions like spinocerebellar ataxias.
 This panel is recommended for anyone with a personal and/or family history of Ataxia and its associated symptoms. Testing is often used to confirm or help rule out a diagnosis of hereditary ataxia.

Genetic testing can help determine if a patient’s ataxia is genetic or acquired due to external factors, which helps with prognosis and treatment. Ataxia requires lifelong management and adopting these habits is often easier the earlier treatment begins, which is why testing is highly recommended if an individual has the condition.

Genetic testing for ataxia can:
  • Establish or confirm the appropriate diagnosis
  • Inform family members about their own risk factors
  • Identify risks for additional related symptoms
  • Get patients started on symptom management as early as possible
  • Result in more personalized treatment and symptom management
  • Connect patients to relevant resources and support
  • Provide options for family planning

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, ASAH1, ATCAY, ATL1, ATM, ATP7A, 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, RORA, 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 ( 153 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
FXN The FXN gene mutations most commonly associated with disease are expansions of a GAA trinucleotide repeat sequence. Only sequence variants and copy number changes in this gene are tested as part of this test unless specifically noted above. Repeat expansion testing may be warranted if the clinical presentation of the patient is specific for a condition associated with this gene.
CPT Code 81407, 81408, 81479

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.