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Results: 21 to 40 of 109

Tests names and labsConditionsGenes, analytes, and microbesMethods

Polyposis, juvenile intestinal, 174900, Autosomal dominant (Juvenile polyposis syndrome) (SMAD4 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

Polyposis, juvenile intestinal, 174900, Autosomal dominant (Juvenile polyposis syndrome) (BMPR1A 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

Polyposis, juvenile intestinal, 174900, Autosomal dominant (Juvenile polyposis syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Polyposis, juvenile intestinal, 174900, Autosomal dominant (Juvenile polyposis syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Pediatric Cancer Panel

PreventionGenetics, part of Exact Sciences
United States
7864
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel

Invitae
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Aortopathy Comprehensive Panel

Invitae
United States
6029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Gastric Cancer Panel

Genetic Services Laboratory University of Chicago
United States
1019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Juvenile Polyposis Syndrome (JPS) via the BMPR1A Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary pediatric cancer panel. NGS panel of 71 genes.

Genologica Medica
Spain
15871
  • C Sequence analysis of the entire coding region

Vascular malformations panel. 14-gene NGS panel.

Genologica Medica
Spain
3814
  • 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

Hereditary gastric cancer. NGS panel of 11 genes.

Genologica Medica
Spain
3311
  • C Sequence analysis of the entire coding region

Familial colonic polyposis. 9-gene NGS panel.

Genologica Medica
Spain
289
  • C Sequence analysis of the entire coding region

Hereditary pancreatic cancer panel. NGS panel of 22 genes.

Genologica Medica
Spain
6122
  • C Sequence analysis of the entire coding region

Hereditary hemorrhagic telangiectasia panel. Panel NGS genes: ACVRL1, ENG, RASA1, SMAD4.

Genologica Medica
Spain
84
  • C Sequence analysis of the entire coding region

Osler Weber Rendu syndrome

Genologica Medica
Spain
74
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 109

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.