Spinocerebellar Ataxia Panel

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General Information

Lab Name
Spinocerebellar Ataxia Panel
Lab Code
SCAPN
Epic Ordering
Spinocerebellar Ataxia Panel
Description

The dominant cerebellar ataxias are a clinically and genetically heterogeneous group of disorders that cannot be differentiated reliably from each other on a clinical basis. DNA testing is highly sensitive and specific and provides a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant cerebellar ataxia. Patient DNA is analyzed to determine the number of CAG trinucleotide repeats located within each allele of the five causative genes; an abnormally large number of CAG repeats is diagnostic for the disease.

Two categories of tests are available:

Estimated Percent of Dominant Cerebellar Ataxias:

  • Spinocerebellar Ataxia 1 (ATXN1) = 5-15%
  • Spinocerebellar Ataxia 2 (ATXN2) = 10-15%
  • Spinocerebellar Ataxia 3 (ATXN3) = 20-30%
  • Spinocerebellar Ataxia 6 (CACNA1A) = 1-15%
  • Spinocerebellar Ataxia 7 (ATXN7) = 1-5%

Notes:

  • Frequencies of SCAs vary significantly in the Japanese and perhaps in other populations.
  • Abnormal-sized ATXN7 alleles have been detected in ataxia patients without retinal degeneration.
  • A DNA test for Friedreich ataxia, an autosomal recessive disorder, can be ordered separately (Online Test Guide Lab Mnemonic Friedreich's Ataxia DNA [FRDAX].

Indications for testing include:

  • Symptomatic testing for patients with ataxia and a family history of ataxia
  • Differential diagnosis for isolated cases of unexplained progressive ataxia (expect a relatively low positive rate)
  • Presymptomatic testing for at-risk family members with appropriate genetic counseling
References
  1. Schöls L, et al. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 1997, 42:924-32. 9403486
  2. Goldfarb LG, et al. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 1996, 39:500-6. 8619528
  3. Brandt V, Zoghbi HY. Spinocerebellar Ataxia Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- . 1998 Oct 1 [updated 2017 Jun 22]. 20301363
  4. Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, and Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997, 60:842-50. 9106530
  5. Pulst S-M. Spinocerebellar Ataxia Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- . 1998 Oct 23 [updated 2019 Feb 14]. 20301452
  6. Dürr A, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996, 39:490-9. 8619527
  7. Paulson H. Spinocerebellar Ataxia Type 3. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- . 1998 Oct 10 [updated 2015 Sep 24]. 20301375
  8. Stevanin G, et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997, 49:1243-6. 9371901
  9. Gomez CM. Spinocerebellar Ataxia Type 6. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-. 1998 Oct 23 [updated 2013 Jul 18]. 20301319
  10. Giunti P, et al. Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet 1999, 64:1594-603. 10330346
  11. Garden G. Spinocerebellar Ataxia Type 7. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-. 1998 Aug 27 [updated 2012 Dec 20]. 20301433
Synonyms
Ataxia Panel, MJD, SCA1, SCA2, SCA3, SCA6, SCA7
Components

Interpretation

Method

Polymerase Chain Reaction (PCR)/Capillary Electrophoresis.

The region containing the CAG repeat of the indicated gene for a specific type of spinocerebellar atxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7) was amplified and fragment lengths determined by comparison to molecular weight standards after capillary electrophoresis. This test was developed and its performance characteristics determined by the Department of Laboratory Medicine at the University of Washington.

Reference Range
See individual components
Ref. Range Notes

No mutation detected.

Guidelines

Ordering & Collection

Specimen Type
Blood
Collection

BLOOD:

  • Adult: 5 mL LAVENDER TOP tube
  • Child: 2 mL LAVENDER TOP tube
  • Also acceptable: YELLOW TOP (ACD) tube
  • Unacceptable: Heparin green top tubes
Forms & Requisitions

Genetics Requisition

Handling Instructions

Blood: Refrigerate whole blood up to 1 week.

Outside Laboratories: Ship whole blood at ambient temperature to arrive within 1 week of specimen collection.

Quantity
requested: Entire specimen
minimum: 1 mL whole blood

Processing

Processing

Blood: Refrigerate whole blood up to 1 week.

Performance

LIS Dept Code
Genetics (GEN)
Performing Location(s)
UW-MT Genetics

Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-598–0304
Lab email: genelab@uw.edu

Tel (EXOME only): 206-543-0459

Manager

Rebecca Gaulin, rgaulin@uw.edu

Genetic Counselors

Angela Jacobson, MS, LGC agibson@uw.edu
Sarah Paolucci, MA, MS, LGC, spaolucc@uw.edu
Jenna Huey, MS, LGC, jlhuey@uw.edu
Sandra Coe, MS,LGC, scoe20@uw.edu
Dru Leistritz, MS, LGC, dru2@uw.edu (EXOME testing only)

Variant Review Scientist

Ankita Jhuraney, PhD

Faculty

Colin C. Pritchard, MD, PhD
Brian H. Shirts, MD, PhD
Christina Lockwood, PhD, DABCC
Stephen Salipante, MD, PhD
Eric Konnick, MD, MS
Niklas Krumm, MD,PhD
Vera Paulson, MD, PhD
Jillian Buchan, PhD, FACMG

Frequency
Performed weekly. Results within 2-3 weeks.
Available STAT?
No

Billing & Coding

CPT codes
81178, 81179, 81180, 81181, 81184
Billing Comments

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

LOINC
26435-8