Myeloproliferative / myelodysplastic syndrome [detection of somatic mutations: JAK2 (V617F … see more Myeloproliferative / myelodysplastic syndrome [detection of somatic mutations: JAK2 (V617F and exon 12), CALR (exon 9) , MPL (exon 10), ASXL1 (exon 13), CBL (exons 8 and 9), CSF3R (exons 14 – 17), DNMT3A (whole coding region), ETNK1 (exon 3), EZH2 (whole  see less
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000610940.1
INHERITED DISEASEMUSCULOSKELETALIMMUNOLOGY ... View more
Last updated in GTR: 2023-08-18
Last annual review date for the lab: 2023-09-29 LinkOut
At a Glance
Diagnosis
Heyn-Sproul-Jackson syndrome; Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome
ASXL1 (20q11.21), CALR (19p13.13), CBL (11q23.3), CSF3R (1p34.3), DNMT3A (2p23.3), ...
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
5336
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
Contact genetics.customercare@unilabs.com
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
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: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 15
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 select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Greather than 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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