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Results: 21 to 40 of 154

Tests names and labsConditionsGenes, analytes, and microbesMethods

Endeavor

PathGroup
United States
73505
  • C Sequence analysis of the entire coding region

OmniSeq INSIGHT

OmniSeq, Inc.
United States
1525
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Hematological Malignancy Fusion Panel

Laboratory for Molecular Pediatric Pathology Boston Children's Hospital
United States
871
  • R RNA analysis

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Limb and Digital Malformations Panel

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

Cleft lip, cleft palate and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft lip, cleft palate and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cleft lip, cleft palate and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

FusionPlex Pan-Heme Panel

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
649
  • R RNA analysis

Hay-Wells syndrome, 106260, Autosomal dominant (Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome) (TP63 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

Hay-Wells syndrome, 106260, Autosomal dominant (Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome) (TP63 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

Limb-mammary syndrome, 603543, Autosomal dominant; LMS (Limb-mammary syndrome) (TP63 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

Limb-mammary syndrome, 603543, Autosomal dominant; LMS (Limb-mammary syndrome) (TP63 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

Rapp-Hodgkin syndrome, 129400, Autosomal dominant; RHS (Rapp-Hodgkin syndrome) (TP63 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

Rapp-Hodgkin syndrome, 129400, Autosomal dominant; RHS (Rapp-Hodgkin syndrome) (TP63 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

Split-hand/foot malformation 4, 605289, Autosomal dominant; SHFM4 (Split hand-split foot malformation) (TP63 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

Split-hand/foot malformation 4, 605289, Autosomal dominant; SHFM4 (Split hand-split foot malformation) (TP63 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

Orofacial cleft 8, 129400, Autosomal dominant (Cleft lip/palate) (TP63 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

Orofacial cleft 8, 129400, Autosomal dominant (Cleft lip/palate) (TP63 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

Results: 21 to 40 of 154

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.