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Results: 21 to 40 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

Skeletal dysplasia extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2619
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13885
  • D Deletion/duplication analysis

RMRP Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

RMRP Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

RMRP Sequence Analysis

Baylor Genetics
United States
31
  • C Sequence analysis of the entire coding region

Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RMRP

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia panel. 23-gene NGS panel.

Genologica Medica
Spain
6023
  • C Sequence analysis of the entire coding region

Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel.

Genologica Medica
Spain
6928
  • C Sequence analysis of the entire coding region

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

Metaphyseal dysplasia panel. NGS panel of 11 genes.

Genologica Medica
Spain
4211
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency

Asper Biogene Asper Biogene LLC
Estonia
6143
  • C Sequence analysis of the entire coding region

RMRP Gene Sequencing

GeneDx
United States
31
  • E Sequence analysis of select exons

RMRP Prenatal Sequence Analysis (GeneAware) (Prenatal Sequence Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Bone Marrow Failure Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
9562
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID) Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
3824
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 64

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.