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Results: 1 to 20 of 25

Tests names and labsConditionsGenes, analytes, and microbesMethods

PITX1 Gene Club foot NGS Genetic DNA Test

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Limb and Digital Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
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

Polydactyly Panel

PreventionGenetics, part of Exact Sciences
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800, Autosomal dominant; CCF (Familial clubfoot with or without associated lower limb anomalies) (PITX1 gene) (Sequence Analysis-All Coding Exons) (Postnata

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800, Autosomal dominant; CCF (Familial clubfoot with or without associated lower limb anomalies) (PITX1 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

Liebenberg syndrome, 186550, Autosomal dominant; LBNBG (Brachydactyly-elbow wrist dysplasia syndrome) (PITX1 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

Congenital Limb Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
10399
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1141
  • C Sequence analysis of the entire coding region

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (sequence analysis of PITX1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Liebenberg Syndrome (PITX1 Single Gene Test)

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

Congenital Contractures NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8157
  • C Sequence analysis of the entire coding region

Syndromal Diseases - panels

MGZ Medical Genetics Center
Germany
14342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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.