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Results: 1 to 20 of 25

Tests names and labsConditionsGenes and analytesMethods

Colorectal cancer, hereditary nonpolyposis type 6

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

Craniofacial Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3131
  • D Deletion/duplication analysis

Craniofacial Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
3131
  • C Sequence analysis of the entire coding region

Craniosynostosis

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
6626
  • C Sequence analysis of the entire coding region

TAADNext

Ambry Genetics
United States
5022
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FBN1 gene sequence and deletion/duplication reflex TAADNext

Ambry Genetics
United States
5022
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext: Cardio

Ambry Genetics
United States
238106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL3A1 gene sequence and deletion/duplication reflex TAADNext

Ambry Genetics
United States
5022
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Pancreatic Cancer , Panel Massive Sequencing (NGS) 16 Genes

Reference Laboratory Genetics
Spain
1516
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
6429
  • D Deletion/duplication analysis

Hereditary colon cancer (panel NGS of 21 genes)

CGC Genetics
Portugal
2121
  • C Sequence analysis of the entire coding region

TGFBR2

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Hereditary colon cancer (panel NGS of 21 genes)

CGC Genetics
Portugal
2121
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

AORTOPATHIES, FAMILIAL

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
209
  • C Sequence analysis of the entire coding region

Hereditary nonpolyposis colorectal cancer, type 6 (HNPCC6, sequence analysis of TGFBR2 gene)

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

Loeys-Dietz Syndrome NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
85
  • C Sequence analysis of the entire coding region

Marfan Syndrome NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
123
  • C Sequence analysis of the entire coding region

Familial Thoracic Aortic Aneurysm NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
2210
  • C Sequence analysis of the entire coding region

TGFBR2

Fulgent Genetics
United States
31
  • 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.

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