Invitae Complement and Coagulation Mediated TMA (aHUS) Gene Panel

25 days; in some cases, additional time may be required for confirmatory or reflex tests

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)

Special Instructions:
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Causes for Rejection:
Hemolyzed; quantity not sufficient for analysis; improper container; improper storage temperature; specimen from an individual who has undergone allogeneic bone marrow transplant

Accredited Laboratory Partner

This test is used for genetic testing for genes associated with complement and coagulation mediated TMA (aHUS).
This test includes the following genes: C3, C5, CD46, CFB, CFH, CFHR5, CFI, DGKE, MMACHC, PLG and THBD.

Whole blood or Oragene Dx 500 saliva kit or ORAcollect Dx OCD-100 buccal swabs or genomic DNA (gDNA) extracted from non-fetal, non-tumor sources only

4 mL whole blood or Oragene Dx 500 saliva kit or 2 ORAcollect Dx OCD-100 buccal swabs or 5 micrograms (μg) of gDNA with a concentration of 50 ng/μL

Lavender-top (EDTA) tube or Oragene Dx 500 saliva collection kit or ORAcollect Dx OCD-100 buccal swabs or 2 mL microcentrifuge tube with screw cap

Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection.

Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection. For gDNA, DNA must be extracted in a CLIA-certified laboratory.