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Spinal Muscular Atrophy Genotyping (SMN1/SMN2 Copy)

eDH Procedure Code(s)

LAB4085 Spinal Muscular Atrophy

Order Questions

LAB4085 Spinal Muscular Atrophy
  • Indication for testing:
  • I understand that it is my responsibility (as the ordering provider) to obtain a signed consent form when ordering germline genetic testing and that the DHMC genetic consent form can be found here: Genetic Consent Form
.

Specimen Information

Specimen Type Specimen Source Acceptable Containers Minimum Test Volume (mL)
Blood Blood, Venous Lav4-R 1.0
Blood Blood, Venous Lav6-R 1.0

Shipping and Handling

Processing Instructions: N/A

Transport Temperature: Refrigerated @ 4°C
Transport Instructions: N/A

Specimen Stability Unprocessed
Unprocessed: Refrigerated at 4°C for 7 days
Specimen Stability Post Processing
Ambient: N/A
Refrigerate: N/A
Frozen: N/A

Test Components

Component LOINC Code
ADDITIONAL INDICATION COMMENTS 8251-1
CGAT DISCLAIMER 62364-5
INDICATION FOR SMA TESTING 42349-1
SIGN-OUT BY 49244-7
SMA PCR INTERPRETATION 50397-9
SMA PCR METHODS USED 85069-3
SMN1 COPY NUMBER RESULT 35462-1
SMN2 COPY NUMBER RESULT 97654-8

Turnaround Time (TAT)

8 Days

CPT Code(s)

81329

Performing Lab Section

Molecular Pathology

Performing Lab(s)

Dartmouth Hitchcock Medical Center Laboratory (MHMH)