GTR Home > Tests > Bloom Syndrome

Overview

Test order codeHelp: Family Prep Screen

Test name

Help

Bloom Syndrome

Purpose of the test

Help

This is a clinical test intended for Help: Screening

Condition

Help

1 condition tested. Click Indication tab for more information.

Methodology

Help
Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
TTargeted variant analysis
SNP Detection

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

How to order

Help

Order URL Help: https://www.counsyl.com/clinic/

Practice guidelines

  • ACOG, 2009
    ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
  • ACMG, 2008
    Carrier screening in individuals of Ashkenazi Jewish descent.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.