Hereditary PCC-PGL Panel (SDHB, SDHC, SDHD, SDHAF2, MAX, and TMEM127)
Collect
Collect whole blood in a purple top (EDTA) tube.
Volume Required
5ml
Minimum Required
3ml
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
4-6 weeks
CPT
81404, 81405 x 2, 81479 x 4
Disease Information
Test Methods:
For this panel we offer DNA sequence analysis of the SDHB, SDHC, SDHD, SDHAF2, MAX, and TMEM127 genes. PCR amplification and sequencing is performed on all coding exons including splice junctions. The patient’s gene sequence is then compared to a reference sequence. Sequence variants are classified as mutations, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members. Mutations in promoters, deep intronic regions and other regulatory regions will not be identified with this assay.
Deletion/duplication testing is also perfomed in this panel for the genes SDHB, SDHC, SDHD, and SDHAF2. Large deletions and duplications will be detected using multiplex ligation-dependent probe amplification assay (MLPA).
Results:
Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.
Utility:
Molecular diagnosis of affected individuals allows pre-symptomatic screening of at risk family members and leads to early detection and timely intervention in the disease process.
Remarks
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.
Contact Us
- (215) 590-8736
- Contact Us Online