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Results: 1 to 20 of 57

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

GPC3 Gene Simpson-Golabi-Behmel syndrome type 1 NGS Genetic DNA Test

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

CDAN1 Gene Anemia dyserythropoietic type 1A NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

NGS Panel for Congenital Dyserythropoietic Anemia

BloodGenetics
Spain
912
  • C Sequence analysis of the entire coding region

Hyperferritinemia Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1515
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

HemeZoom

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

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Invitae Hereditary Hemolytic Anemia Panel

Invitae
United States
7439
  • D Deletion/duplication analysis

Invitae Congenital Dyserythropoietic Anemia (CDA) Panel

Invitae
United States
127
  • D Deletion/duplication analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1434
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Solid Tumor Profile

Genomic Testing Cooperative, LCA
United States
1434
  • C Sequence analysis of the entire coding region

Dyserythropoietic anemia, congenital, type Ia, 224120, Autosomal recessive; CDAN1A (Congenital dyserythropoietic anemia type I) (CDAN1 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

Dyserythropoietic anemia, congenital, type Ia, 224120, Autosomal recessive; CDAN1A (Congenital dyserythropoietic anemia type I) (CDAN1 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

Hereditary Hemolytic Anemia Panel

PreventionGenetics, part of Exact Sciences
United States
4434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 57

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.