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HelpTest Code SCARA Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies
Ordering Guidance
This test is not a gene panel for all types of spinocerebellar ataxia (SCA). If individual findings are not specific for one type of SCA, panel analysis is available and includes testing for SCA1, 2, 3, 6, and 7; order SCAP / Spinocerebellar Ataxia Repeat Expansion Panel, Varies.
This test and SCAP should not be ordered concurrently.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
The type of spinocerebellar ataxia (SCA) to be assessed (SCA1, 2, 3, 6, or 7) is required. This information must be provided for testing to be performed.
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.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
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.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Prenatal Specimens
Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor.
Specimen Type: Amniotic fluid
Container/Tube: Amniotic fluid container
Specimen Volume: 20 mL
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional information:
1. A separate culture charge will be assessed under CULAF / Culture for Genetic Testing, Amniotic Fluid.
2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Specimen Type: Chorionic villi
Container/Tube: 15-mL tube containing 15 mL of transport media
Specimen Volume: 20 mg
Specimen Stability Information: Refrigerated
Additional Information:
1. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing.
2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Acceptable:
Specimen Type: Confluent cultured cells
Container/Tube: T-25 flask
Specimen Volume: 2 Full flasks
Collection Instructions: Submit confluent cultured cells from another laboratory.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information: All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
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
Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
| CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MATCC | Maternal Cell Contamination, B | Yes | No |
| G204 | ATXN1 (SCA 1) Gene Analysis | No, (Bill Only) | No |
| G205 | ATXN2 (SCA 2) Gene Analysis | No, (Bill Only) | No |
| G206 | ATXN3 (SCA 3) Gene Analysis | No, (Bill Only) | No |
| G207 | ATXN7 (SCA 7) Gene Analysis | No, (Bill Only) | No |
| G208 | CACNA1A (SCA 6) Gene Analysis | No, (Bill Only) | No |
Testing Algorithm
For prenatal specimens only:
-If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added at an additional charge.
-If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added at an additional charge.
For any prenatal specimen that is received, maternal cell contamination studies will be added.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)
Reporting Name
SCA 1,2,3,6, or 7 Repeat AnalysisSpecimen Type
VariesSpecimen Minimum Volume
Amniotic fluid: 10 mL
Blood: 0.5 mL
Chorionic villi: 5 mg
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
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 daysPerforming 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
88233-Fibroblast Culture (if appropriate)
88235-Amniotic Fluid Culture (if appropriate)
88240-Cryopreservation (if appropriate)
81265-Maternal Cell Contamination (if appropriate)
81178 (if appropriate)
81179 (if appropriate)
81180 (if appropriate)
81181 (if appropriate)
81184 (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SCARA | SCA 1,2,3,6, or 7 Repeat Analysis | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 609700 | Result Summary | 21769-5 |
| MG323 | Test Code | 21768-7 |
| 609701 | Result | 36911-6 |
| 609702 | Interpretation | 69047-9 |
| 609703 | Reason for Referral | 42349-1 |
| 609704 | Specimen | 31208-2 |
| 609705 | Source | 31208-2 |
| 609706 | Method | 85069-3 |
| 609707 | Disclaimer | 62364-5 |
| 609708 | Released By | 18771-6 |