NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000553646.7
Last updated in GTR: 2023-09-28
Last annual review date for the lab: 2023-08-10 LinkOut
At a Glance
Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Bernard Soulier syndrome more...
BHLHE41 (12p12.1); BPGM (7q33); EGLN1 (1q42.2); EPAS1 (2p21); EPO (7q22.1) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with suspected Congenital Erythrocythosis or Familiar Polycythemia
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Public Health Mandate
  • Health Care Provider
  • Licensed Physician
  • Genetic Counselor
Test Order Code: Help
Lab contact: Help
Mayka Sanchez, PhD, 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
Please write an email to
Order URL
Test service: Help
Confirmation of research findings
    OrderCode: 10050
Custom Sequence Analysis
    OrderCode: 10050
Result interpretation
    OrderCode: 10050
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 10050
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
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: 12
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 11
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq/MiniSeq
Clinical Information
Test purpose: Help
Target population: Help
Patients with suspected Congenital Erythrocythosis or Familiar Polycythemia
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. Prepared and edited by Jennie Bell, Danielle Bodmer, Erik Sistermans and Simon C Ramsden

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We systematically (every 6-8 months) re-evaluated the data and re-contact the physician in case of new findings
Is research allowed on the sample after clinical testing is complete? Help
Research is done after clinical test is complete for novel mutations. Informed consent for research is required.
Sample reports:
Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
Technical Information
Test Procedure: Help
All coding exons, 50 bp of flanking intronic sequence and at least 100bp of untranslated regions are enriched using Haloplex HS custom targeted protocol (Agilent), followed by high throughput sequencing (Illumina). Sequence variants changes are assessed and interpreted using commercial software combined with public and our own expert database. All … View more
Test Confirmation: Help
If we found a pathogenic variation, we perform an independent analysis to confirm the finding
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99.9%. If we found a pathogenic variation, we perform an independent analysis to confirm the finding
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
Sanger Full EQA test and NGS Germline EQA Test
Software used to interpret novel variations Help
Mutation surveyor or own pipeline for NGS

Laboratory's policy on reporting novel variations Help
Novel variations suspected to be patogenic are included in the routine reports. VUS are also reported. Non pathogenic variations are NOT reported as well as VUS with MAF>3%
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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