Diagnostic Test Directory

Molecular Genetics Laboratory

CHOP in the News

Clinical Lab Products quotes Avni Santani, PhD, Scientific Director, Molecular Genetics Laboratory, in a story about next-gen sequencing. Read the story »

Laboratory Update

Testing for the Noonan spectrum of disorders is now available at the Molecular Genetics Laboratory. Learn more about Noonan spectrum testing »

FHL1-RELATED MYOPATHIES (FHL1 Familial Mutation Analysis)

  • Synonyms: Myofibrillar Myopathy, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM, MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA, MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-
  • LIS Mnemonic: MBFHL1PT

    Collect

    Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.

    Volume Required

    5 ml whole blood or 1 ug DNA

    Minimum Required

    3 ml whole blood

    Transport

    Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.

    Stability

    Whole blood can be refrigerated until shipment.

    Unacceptable conditions

    Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

    Specimen Handling

    Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.

Days Performed

Mon - Fri 9:00am to 4:00pm

Reported

2-3 weeks

CPT

81403

Disease Information

Test Methods:

Sequence analysis of the FHL1 mutation previously identified in a family member will be performed.

Detection Rate:

The analytical sensitivity is close to 100% for point mutations by DNA sequencing.

Results:

Test results with interpretation will be mailed and/or faxed to the referring physician or laboratory following completion of the test. Additional reports will be provided as requested.

Search Lab Test Directory

Search by disease or test name

View a full list of all lab tests

Contact Us

Ask for more information about our laboratory services.

215-590-5221