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Results: 1 to 20 of 104

Tests names and labsConditionsGenes and analytesMethods

CentoCancer panel

Centogene AG - the Rare Disease Company
Germany
5231
  • C Sequence analysis of the entire coding region

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Bloom syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bloom Syndrome

Counsyl
United States
11
  • C Sequence analysis of the entire coding region

Chromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
11
  • B Chromosome breakage studies

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel

Genetic Services Laboratory University of Chicago
United States
3679
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel

Genetic Services Laboratory University of Chicago
United States
1013
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel

Genetic Services Laboratory University of Chicago
United States
1723
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RECQL3. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Bloom Syndrome Ashkenazic Mutation Panel

Baylor Miraca Genetics Laboratories
United States
11
  • S Mutation scanning of the entire coding region

BLM Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

BLM Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

BLM Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

Cancer Sequencing Panel with CNV Detection

PreventionGenetics
United States
10999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bloom's Syndrome via BLM Gene Sequencing with CNV Detection

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chromosomal Instability Syndromes Sequencing Panel with CNV Detection

PreventionGenetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chromosome SCE, Bloom syndrome, Prenatal

Quest Diagnostics Nichols Institute Chantilly
United States
11
  • E Sister chromatid exchange

Chromosome SCE Assay for Bloom Syndrome

Quest Diagnostics Nichols Institute Chantilly
United States
11
  • E Sister chromatid exchange

Hereditary Cancer Panel- Comprehensive63

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
6863
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

planTrue Jewish Screen

True Health Diagnostics
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 104

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.

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