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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT)

Machaon Diagnostics
United States
2631
  • C Sequence analysis of the entire coding region

TBXAS1 - NGS including CNV analysis

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

Abnormal Mineralization Panel

Centogene AG - the Rare Disease Company
Germany
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ghosal hematodiaphyseal syndrome, 231095, Autosomal recessive (Ghosal hematodiaphyseal dysplasia) (TBXAS1 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

Ghosal hematodiaphyseal syndrome, 231095, Autosomal recessive (Ghosal hematodiaphyseal dysplasia) (TBXAS1 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

Platelet Function Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteopetrosis and Dense bone dysplasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TBXAS1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

TBXAS1 - Genetic Analysis

Versiti Diagnostic Laboratories Versiti, Inc
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ghosal Hematodiaphyseal Dysplasia (TBXAS1 Single Gene Test)

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

Platelet Disorder NGS Panel

Fulgent Genetics
United States
7444
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel

Fulgent Genetics
United States
14682
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia with increased bone density Panel

CeGaT GmbH
Germany
2628
  • C Sequence analysis of the entire coding region

TBXAS1 Single Gene

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
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.