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Results: 1 to 20 of 90

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • 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

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

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
345159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
250155
  • C Sequence analysis of the entire coding region

beta Thalassemia

Dr. Zeinali's Medical Genetics Lab Kawsar Human Genetics Research Center
Iran
111
  • D Deletion/duplication analysis
  • L Linkage analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Sickle cell anemia, 603903, Autosomal recessive (Sickle cell anemia) (HBB gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Sickle cell anemia, 603903, Autosomal recessive (Sickle cell anemia) (HBB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Sickle cell anemia (GLU6VAL) (HBB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Sickle cell anemia (GLU6VAL) (HBB gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

UNITY Carrier Screen

BillionToOne
United States
165
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Core Carrier Screen

Invitae
United States
67
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hb Beta Chain-Related Hemoglobinopathy

Myriad Genetics, Inc.
United States
21
  • C Sequence analysis of the entire coding region

Cellulose Acetate Electrophoresis

Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland
United States
43
  • P Protein analysis

Results: 1 to 20 of 90

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.