Testing is performed by Blueprint Genetics. The Bone Marrow Failure Syndrome Panel includes next-gen sequencing of coding regions, exon-intron boundaries, and certain non-coding variants in 128 genes. Deletion/duplication analysis is performed to detect copy number variants (CNVs) ≥1 exon in size. Full test details including sample reports are available here.
Note: Patient or parent signature on the Blueprint Genetics Informed Consent Form is required. Testing will be put on hold until a signed form is received.
This panel is for patients with a clinical suspicion of inherited bone marrow failure syndromes. Inherited bone marrow failure syndromes are a group of clinically and genetically heterogenous disorders. The genetic diagnosis is essential in management and surveillance of these diseases. The Blueprint Genetics Bone Marrow Failure Syndrome Panel covers classical genes associated with Hermansky-Pudlak syndrome, Diamond-Blackfan anemia, Fanconi anemia, Wiskott-Aldrich syndrome, Bloom syndrome, ELANE-related neutropenia, Shwachman-Diamond syndrome, Inherited bone marrow failure syndrome, familial hemophagocytic lymphohistiocytosis, severe congenital neutropenia and dyskeratosis congenita.
Peripheral blood: 5 mL in EDTA tube
Use cold pack for transport. Make sure cold pack is not in direct contact with specimen.