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Test Code SCAP Spinocerebellar Ataxia Repeat Expansion Panel, Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Specimen Type: Whole blood

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

Container/Tube:

Preferred: 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.


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

Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn’t suspected

Method Name

Polymerase Chain Reaction (PCR)

Reporting Name

Spinocerebellar Ataxia Panel

Specimen Type

Varies

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

SPINOCEREBELLAR ATAXIA TYPE 1

Normal alleles: <36 CAG repeats

Normal alleles with CAT interruptions: 36-43 repeats

Intermediate alleles without CAT interruptions: 36-37 repeats

Uncertain significance: 38 repeats

Expanded alleles without CAT interruptions: >38 CAG repeats

Expanded alleles with CAT interruptions: >43 CAG repeats

 

SPINOCEREBELLAR ATAXIA TYPE 2

Normal alleles: <32 repeats

Uncertain significance: 31 homozygous and 32 repeats

Reduced penetrance: 33-34 repeats

Expanded alleles: >34 repeats

 

SPINOCEREBELLAR ATAXIA TYPE 3

Normal alleles: <45 repeats

Intermediate alleles: 45-59 repeats

Expanded alleles: >59 repeats

 

SPINOCEREBELLAR ATAXIA TYPE 6

Normal alleles: <19 repeats

Intermediate alleles: 19 heterozygous repeats

Uncertain significance: 19 homozygous repeats

Expanded alleles: >19 repeats

 

SPINOCEREBELLAR ATAXIA TYPE 7

Normal alleles: <19 repeats

Uncertain significance: 19-27 repeats

Intermediate alleles: 28-33 repeats

Reduced penetrance: 34-36 repeats

Expanded alleles: >36 repeats

 

An interpretive report will be provided.

Interpretation

An interpretive report will be provided.

Clinical Reference

1. Soong BW, Morrison PJ: Spinocerebellar ataxias. Handb Clin Neurol. 2018;155:143-174. doi: 10.1016/B978-0-444-64189-2.00010-X

2. Buijsen RAM, Toonen LJA, Gardiner SL, van Roon-Mom WMC: Genetics, mechanisms, and therapeutic progress in polyglutamine spinocerebellar ataxias. Neurotherapeutics. 2019 Apr;16(2):263-286. doi: 10.1007/s13311-018-00696-y

Day(s) Performed

Monday, Wednesday

Report Available

21 to 28 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

81178

81179

81180

81181

81184

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SCAP Spinocerebellar Ataxia Panel In Process

 

Result ID Test Result Name Result LOINC Value
609506 Result Summary 21769-5
609507 Result 36911-6
609508 Interpretation 69047-9
609509 Additional Information 48767-8
609510 Specimen 31208-2
609511 Source 31208-2
609512 Method 85069-3
609513 Disclaimer 62364-5
609514 Released By 18771-6