WES iron disorders
GTR Test Accession: Help GTR000567626.1
Last updated in GTR: 2019-05-13
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
X-linked sideroblastic anemia with ataxia; Congenital dyserythropoietic anemia type 4; Congenital dyserythropoietic anemia type type 1B; ...
ABCB10 (1q42.13), ABCB7 (Xq13.3), ALAS2 (Xp11.21), ATP4A (19q13.12), BMP6 (6p24.3), ...
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with Iron disorders
Not provided
Not provided
Ordering Information
Offered by: Help
Translational Metabolic Laboratory
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Test Order Code: Help
How to Order: Help
See website
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
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Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Recommended fields not provided:
Conditions Help
Total conditions: 20
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 46
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Target population: Help
Patients with Iron disorders
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
With WES, 94.3% of this panel is covered with >20 reads and 97.4% is covered with >10 reads.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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