The inherited bone marrow failure syndromes are a clinically and genetically heterogeneous group of diseases affecting hematopoiesis, resulting in reduced or abnormal production of one or more of the three blood cell types (red blood cell, white blood cell and platelets).  The most common genetic causes of bone marrow failure include dyskeratosis congenita, Diamond Blackfan anemia, Fanconi anemia Schwachman Diamond syndrome, congenital thrombocytopenia, and inherited causes of neutropenia. Bone marrow failure syndromes may be inherited in an autosomal dominant, autosomal recessive, or X- linked manner. Patients with bone marrow failure are at an increased risk of developing myeloid dysplastic syndromes. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue.

  • The panel includes sequence and deletion/duplication analysis of all the listed genes. 
  • This panel includes all of the genes from our Diamond-Blackfan Anemia, Telomere Biology Disorder/Dyskeratosis Cogenita, Fanconi Anemia, and Severe Congenital Neutropenia panels. 
Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
5133
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Comprehensive Inherited Bone Marrow Failure Panel can also be ordered individually. Please contact us directly for cost and CPT code information.
If sending saliva, 2 kits are required.