Spinal Muscular Atrophy, Diagnostic Test (Sendout)
General Information
- Lab Name
- Lab Code
- 662
- External Test Id
- LAB1912
- Description
Description: Spinal muscular atrophy (SMA) causes progressive muscular weakness and degeneration by loss of anterior horn cells in the brain stem and spinal cord. Approximately 95-98% of individuals with SMA are homozygous for a deletion of exons 7 & 8 of the SMN1 gene. The remaining 2%-5% of individuals with SMA are compound heterozygotes for a deletion in combination with a point mutation within the SMN1 gene. Increases in SMN2 gene copy number often modify the phenotype. This test will determine the copy number of both the SMN1 and SMN2 genes.
This test can be used for: Diagnostic testing in an individual suspected to have SMA.
Ordering Requirements:
- A completed Seattle Children's Hospital Molecular Genetics Requisition must accompany all orders.
Ordering Note: To order the SMA Carrier Test, refer to Spinal Muscular Atrophy, Carrier Test (Sendout) [RSMACT].
- Forms & Requisitions
- Seattle Children's Hospital Laboratory Molecular Genetics Requisition
- Synonyms
- LAB1912, SMA, SMA Diagnostic, SMA Type 1, SMN1, SMN2
- Components
Interpretation
- Method
Multiple ligation-dependent probe amplification (MLPA) of exons 7&8 in SMN1 & SMN2 genes
- Reference Range
- Ref. Range Notes
An interpretive report will be provided.
- Interferences and Limitations
Limitations: 95-98% of individuals with SMA have SMN1 deletions which can be detected using this technique. The remaining 2-5% of individuals with SMA have a point mutation within the SMN1 gene that is not detected by this test.
Ordering & Collection
- Specimen Type
- Blood, Cord Blood
- Collection
-
3 mL whole blood/cord blood in LAVENDER (EDTA) top tube
Also Accepted: Yellow ACD (A or B)
- Contact SCH Molecular Genetics Lab directly at 206-987-3872 to discuss submission of other sample types.
Unacceptable: Heparinized samples.
- Forms & Requisitions
- Seattle Children's Hospital Laboratory Molecular Genetics Requisition
- Handling Instructions
Outside Laboratories:
- Refrigerate blood samples prior to shipment. Transport with a cold pack.
- A completed SCH Molecular Genetics requisition must accompany the sample.
Stability: Ambient: 3-5 days; Refrigerated: 7 days; Frozen: Unacceptable.
- Note: Whole blood samples >7 days old may still be submitted to SCHL to be assessed for acceptability.
- Quantity
-
Requested: 3 mL whole blood
Minimum: 1 mL whole blood
Processing
- Receiving Instructions
Hold blood samples at room temperature if sending same-day. If shipment is delayed, refrigerate sample until sending.
Login: GSEND1-;ROOM TEMP
- GSNDT1: SEACHL
- GSTYP1: WB (or CORDB)
- GTSRQ1: ;Spinal Muscular Atrophy, Diagnostic Test (SEACHL Test LAB1912)
Sendouts:
- Oder SEACHL Test: LAB1912
- Send samples at ambient temperature with a completed SEACHL Genetics requisition via DLMP or Delivery Express courier. If shipment is delayed, refrigerate sample until ready to send.
- Samples not sent out same day as collection should be refrigerated prior to shipment, and then sent at room temp.
Stability: Ambient: 3-5 days; Refrigerated: 7 days; Frozen: Unacceptable.
- Note: Whole blood samples >7 days old may still be submitted to SCHL to be assessed for acceptability.
- Misc Sendout
Performance
- Lab Department
- Frequency
- Performed: Monday-Friday. Turnaround time: 2 weeks.
- Available STAT?
- No
- Performing Location(s)
-
Sendout Seattle Children's Hospital Laboratories
206-987-26174800 Sand Point Way NE
Seattle, WA 98105Room Number: FB.2.441
- Other Locations/Notes
SCH Molecular Genetics Laboratory: (206) 987-3872
Billing & Coding
- Billing Comments
CPT: 81329