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Results: 1 to 20 of 261

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

Mayo Clinic Laboratories Mayo Clinic
United States
3940
  • C Sequence analysis of the entire coding region

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

HBB Gene Sickle cell anemia NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

HBB Gene Delta-beta thalassemia NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Red Blood Cell Membrane Panel, Next-Generation Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
1914
  • C Sequence analysis of the entire coding region

Red Blood Cell Enzyme Panel, Next-Generation Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
1917
  • C Sequence analysis of the entire coding region

Congenital Dyserythropoietic Anemia Panel, Next-Generation Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
610
  • C Sequence analysis of the entire coding region

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Hemoglobin E disease: Cd26(T-C) mutation study

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Hemoglobin D disease: Cd121G>C mutation study

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Beta-thalassemia gene sequencing

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • S Mutation scanning of the entire coding region

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies

BloodGenetics
Spain
3336
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
10796
  • C Sequence analysis of the entire coding region

Sickle Cell Disease Mutation Analysis

Molecular Diagnostics Lab Nemours Children's Health, Delaware
United States
21
  • E Sequence analysis of select exons

Full HBB’s gene Sanger study

BloodGenetics
Spain
11
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HBB - MLPA

Centogene AG - the Rare Disease Company
Germany
81
  • D Deletion/duplication analysis

HBB - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 261

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.