PMC Anemia Panel

Associated Conditions
- Adenylate kinase deficiency, hemolytic anemia due to
- Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)
- Alpha-thalassemia/mental retardation syndrome
- Anemia, dyserythropoietic congenital, Blood group, Lutheran inhibitor, Hereditary persistence of fetal hemoglobin
- Anemia, hypochromic microcytic, with iron overload
- Anemia, sideroblastic 2, pyridoxine-refractory
- Anemia, sideroblastic, and spinocerebellar ataxia
- Anemia, sideroblastic, Protoporphyria, erythropoietic
- Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopenia
- Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasia
- Ataxia-Telangiectasia
- Atransferrinemia
- Autoinflammatory-pancytopenia syndrome
- Bloom syndrome
- Bone marrow failure syndrome 3
- Breast-ovarian cancer, familial
- Carpenter-Waziri syndrome
- Congenital dyserythropoietic anemia
- Cryohydrocytosis, Acanthocytosis, Band 3 Memphis
- Cutaneous telangiectasia and cancer syndrome
- Dehydrated hereditary stomatocytosis
- Diamond-Blackfan anemia
- Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- Diamond-Blackfan anemia 16
- Fanconi anemia
- Gamma-glutamylcysteine synthetase deficiency
- Glucose-6-phosphate dehydrogenase deficiency
- Glutathione synthetase deficiency
- Hemochromatosis
- Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
- Hemolytic uremic syndrome, atypical
- Hereditary breast cancer
- Holmes-Gang syndrome
- Hyperuricemic nephropathy, Hyperproreninemia, familial, Renal tubular dysgenesis
- Iron-refractory iron deficiency anemia
- Juberg-Marsidi syndrome
- Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency
- Lympehedema, hereditary III
- Majeed syndrome
- Medulloblastoma, Glioma susceptibility, Wilms tumor
- Megaloblastic anemia due to dihydrofolate reductase deficiency
- Megaloblastic anemia-1, Finnish
- Megaloblastic anemia-1, Norwegian
- Mental retardation-hypotonic facies syndrome
- Methemoglobinemia due to methemoglobin reductase deficiency
- Methylmalonic acidemia
- Mitochondrial myopathy and sideroblastic anemia
- Myopathy, lactic acidosis, and sideroblastic anemia
- Nijmegen breakage syndrome
- Osteopetrosis
- Overhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, regulator type, Anemia, hemolytic,Rh-Mod type, RHAG blood group
- Pancreatic cancer
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase E3-binding protein deficiency
- Pyruvate kinase deficiency, Elevation of red blood cell ATP levels, familial
- Renal tubular acidosis, distal, with hemolytic anemia
- Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial
- Seckel syndrome
- Shwachman-Diamond syndrome
- Sickle cell disease, Thalassemia-beta, dominant inclusion body, Other Thalassemias/Hemoglobinopathies, Beta-thalassemia, Hereditary persistence of fetal hemogoblin
- Smith-Fineman-Myers syndrome
- Anemia, neonatal hemolytic
- Ellipsocytosis, Pyropoikilocytosis
- Spherocytosis, Ovalcytosis
- Thiamine-responsive megaloblastic anemia syndrome
- Thrombophilia due to thrombomodulin defect
- Transcobalamin II deficiency
- Triosephosphate isomerase deficiency
- Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
- Xeroderma pigmentosum, XFE progeroid syndrome

Methodology

Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)

Coverage

120x

Assay Information
- PIEZO1: Sequencing analysis is not offered for exon 22.

Ordering information

Turnaround Time: 10 business days

Preferred Speciment: Saliva Kits (available upon request)

Alternate Specimens: Nail clippings or 3-mL whole blood in purple top EDTA tube

Request a specimen collection kit

Limitations

All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.

References
- 1. Richards S et al. Genetics in medicine. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 2015 May;17(5):405-24 (PMID: 25741868)
- 2. GnomAD (gnomAD)
- 3. CSPEC (ClinGen variant classification rules registry) Criteria Specification Registry
- 4. Normal copy number variation in healthy individuals database of genomic variants: http://dgv.tcag.ca/dgv/app/home
- 5. Riggs, E.R., Andersen, E.F., Cherry, A.M. et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med 22, 245–257 (2020). https://doi.org/10.1038/s41436-019-0686-8
- 6. Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014 Jan 1;42(1):D980-5. doi: 10.1093/nar/gkt1113. PubMed PMID: 24234437.
- 7. Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), Copyright® 1966-2012. World Wide Web URL: http://omim.org.
- 8. http://tinyurl.com/ACMGv4 (ACMG/ Clingen draft Interpretation SOP); clingen_variant-curation_sopv1.pdf

Order a Kit:

New Provider:

Contact:

Test Description

Associated Conditions

Methodology

Coverage

Assay Information

Ordering information

Limitations

References

Tagged Genes