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Results: 1 to 20 of 25 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

CDKN1C sequencing

Genetic Services Laboratory University of Chicago
United States
21
  • C Sequence analysis of the entire coding region

IMAGE syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CDKN1C mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
21
  • C Sequence analysis of the entire coding region

Invitae Overgrowth and Macrocephaly Syndromes Panel

Invitae
United States
4320
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
13561
  • E Sequence analysis of select exons

Hereditary Renal Cancer Panel

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
4413
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

CDKN1C Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

Hypospadias Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
7361
  • C Sequence analysis of the entire coding region

Abnormal/Ambiguous Genitalia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
8272
  • C Sequence analysis of the entire coding region

Selected Genetic Syndromes with skeletal involvement Panel

CeGaT GmbH
Germany
3642
  • C Sequence analysis of the entire coding region

Syndromic and non syndromic deafness (NGS panel for 127 genes)

CGC Genetics
Portugal
118127
  • C Sequence analysis of the entire coding region

Syndromic deafness (NGS panel for 62 genes)

CGC Genetics
Portugal
5662
  • C Sequence analysis of the entire coding region

Overgrowth and Intellectual Disability NGS panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
2013
  • C Sequence analysis of the entire coding region

CYCLIN-DEPENDENT KINASE INHIBITOR 1C (CDKN1C)

MVZ Dortmund Dr. Eberhard and Partner
Germany
21
  • C Sequence analysis of the entire coding region

CYCLIN-DEPENDENT KINASE INHIBITOR 1C (CDKN1C)

MVZ Dortmund Dr. Eberhard and Partner
Germany
21
  • C Sequence analysis of the entire coding region

CDKN1C

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
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Cancer Syndrome: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
10645
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Disproportionate Short Stature: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19977
  • 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.

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