HYPEREOSINOPHILIC SYNDROME
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000556106.2
IMMUNOLOGYINHERITED DISEASECARDIOVASCULAR ... View more
Last updated in GTR: 2018-09-24
Last annual review date for the lab: 2024-09-06 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Predictive
Idiopathic hypereosinophilic syndrome
Genes (1): Help
JAK2 (9p24.1)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Laboratorio de Genetica Clinica SL
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Buffy coat
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Saliva
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Informed consent required: Help
Decline to answer
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: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity for this assay is estimated to be >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Polyphen-2, SIFT, Mutationtaster, MutationAssesor, Human Splicing Finder, AASsites
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.