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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

BMPR1B - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Polydactyly and Syndactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Acromesomelic dysplasia, Demirhan type, 609441, Autosomal recessive (Brachydactyly type A2) (BMPR1B 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

Acromesomelic dysplasia, Demirhan type, 609441, Autosomal recessive (Brachydactyly type A2) (BMPR1B 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

Syndactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
163128
  • C Sequence analysis of the entire coding region

BMPR1B

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • 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

Micromelic dysplasia panel. NGS panel of 27 genes.

Genologica Medica
Spain
8327
  • C Sequence analysis of the entire coding region

Brachydactyly / syndactyly panel. NGS panel of 20 genes.

Genologica Medica
Spain
5520
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Acromesomelic dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

BMPR1B gene sequencing

Duzen Laboratories Duzen BBAGUAS
Turkey
31
  • C Sequence analysis of the entire coding region

Pulmonary Hypertension Panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
1313
  • C Sequence analysis of the entire coding region

Micromelic Dysplasia NGS Panel

Fulgent Genetics
United States
14024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary-Vascular Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
10086
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary Hypertension Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1716
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BMPR1B Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.