HAX1 Gene Sequencing and Deletion/Duplication Analysis
GTR Test Accession: Help GTR000552065.7
IMMUNOLOGYINHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2019-12-05
Last annual review date for the lab: 2024-02-05 LinkOut
At a Glance
Diagnosis
Kostmann syndrome
Genes (1): Help
HAX1 (1q21.3)
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Not provided
Not provided
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Ordering Information
Offered by: Help
DDC Clinic Molecular Diagnostics Laboratory
View lab's website
View lab's test page
Test short name: Help
HAX1
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
HAX1 Sequencing and/or Deletion and Duplication Analysis
View other test codes
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Heng Wang, MD, PhD, ABP, Lab Director
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
To order, please complete the requisition that is on our website www.DDCcliniclab.org. Please make sure to complete the billing information and billing and contact name. If possible, please obtain prior authorization before sending the sample to our laboratory. Send EDTA purple top tube overnight delivery to arrive Monday through Friday …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Microarray
CytoScan XON Assay
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Procedure: Help
All clinically significant and novel variants are confirmed by Sanger sequencing as needed.
Test Confirmation: Help
All clinically significant and novel variants are confirmed by Sanger sequencing as needed.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99-100% Detection Rate
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.