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Test ID: ATAXP Inherited Ataxia Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.

The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Neurology Patient Information

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Useful For

Establishing a molecular diagnosis for patients with ataxia

 

Identifying variants within genes known to be associated with ataxia, allowing for predictive testing of at-risk family members

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 198 genes associated with ataxia: AAAS, ABCB7, ABHD12, ACO2, ADPRHL2 (ADPRS), AFG3L2, ALDH5A1, ALG6, ALS2, ANO10, APOPT1 (COA8), APTX, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, AUH, C12orf65 (MTRFR), C19orf12, CA8, CACNA1A, CACNA1G, CAMTA1, CAPN1, CC2D2A, CCDC88C, CHCHD10, CLCN2, CLN5, CLPP, COQ2, COQ8A, COX20, CP, CTBP1, CWF19L1, CYP27A1, DARS2, DLD, DNAJC19, DNAJC3, DNMT1, EBF3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, FA2H, FBXL4, FGF14, FLVCR1, FMR1, FOLR1, FXN, GAMT, GBA2, GCDH, GDAP2, GFAP, GJC2, GOSR2, GRID2, GRM1, HEPACAM, HEXA, HIBCH, ITM2B, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCTD7, KIF1C, KIF5A, L2HGDH, LAMA1, LYRM7, MARS2, MECR, MLC1, MPV17, MRE11, MSTO1, MTFMT, MTO1, MTTP, NDUFAF2, NDUFAF6, NDUFS1, NDUFS7, NDUFV1, NEU1, NKX6-2, NOTCH3, NUBPL, OPA1, OPA3, OTC, PANK2, PCNA, PDHA1, PDSS2, PDYN, PEX10, PEX7, PHYH, PLA2G6, PLD3, PLP1, PMM2, PMPCA, PNKP, PNPLA6, POLG, POLR1C, POLR3A, POLR3B, PRKCG, PRNP, PRRT2, PSAP, PTRH2, PUM1, RARS1, RNASEH1, RNF170, RNF216, RPGRIP1L, RRM2B, RUBCN, SACS, SAMD9L, SCN2A, SCN8A, SCYL1, SDHA, SDHAF1, SETX, SIL1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC25A3, SLC25A46, SLC2A1, SLC44A1, SLC52A2, SLC52A3, SLC6A19, SLC9A1, SLC9A6, SNX14, SPAST, SPG11, SPG7, SPR, SPTBN2, SQSTM1, SRD5A3, STUB1, SUMF1, SURF1, SYNE1, TACO1, TBP, TDP1, TDP2, TGM6, THG1L, TIMM8A, TMEM216, TMEM240, TMEM67, TMEM70, TPK1, TPP1, TSFM, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VARS2, VLDLR, VPS13D, WDR73, WDR81, and WFS1. For more information see Targeted Genes and Methodology Details for Inherited Ataxia Gene Panel and Method Description.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for ataxia.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Ataxia Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Ataxia involves impaired coordination of voluntary muscle movement and can present in isolation or as part of a more complex disease. Additionally, ataxia may present as an abnormality in gait, changes in speech, and abnormal eye movements. The age of onset of symptoms can vary dramatically both within and across different ataxias. While there are acquired causes of ataxia, many have an underlying genetic cause. The hereditary ataxias can be subdivided by inheritance, including autosomal dominant, autosomal recessive, X-linked, and mitochondrial.

 

The hereditary ataxias are a heterogeneous group of disorders in which a diagnosis can be made based on a neurologic exam, family history, and molecular analysis. Given the clinical overlap of hereditary ataxia disorders, multigene panels can be an efficient and cost-effective way to establish a molecular diagnosis for individuals with ataxia.

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17(5):405-424.

2. Sandford E, Burmeister M. Genes and genetic testing in hereditary ataxias. Genes (Basel). 2014;5(3):586-603

3. Jayadev S, Bird TD. Hereditary ataxias: overview. Genet Med. 2013;15(9):673-83

Day(s) Performed

Varies

Report Available

21 to 35 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81443

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ATAXP Ataxia Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
617507 Test Description 62364-5
617508 Specimen 31208-2
617509 Source 31208-2
617510 Result Summary 50397-9
617511 Result 82939-0
617512 Interpretation 69047-9
618175 Additional Results 82939-0
617513 Resources 99622-3
617514 Additional Information 48767-8
617515 Method 85069-3
617516 Genes Analyzed 48018-6
617517 Disclaimer 62364-5
617518 Released By 18771-6
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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