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Results: 61 to 78 of 78

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
2308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1246
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias Core Panel

Blueprint Genetics
Finland
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OSTEOPETROSIS, AUTOSOMAL DOMINANT (ALBERS-SCHONBERG DISEASE)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

OSTEOPETROSIS, AUTOSOMAL RECESSIVE

Laboratorio de Genetica Clinica SL
Spain
88
  • C Sequence analysis of the entire coding region

CLCN7 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Immunodeficiency Panel

Blueprint Genetics
Finland
2275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteopetrosis and Dense Bone Dysplasia Panel

Blueprint Genetics
Finland
125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hematology Panel

Blueprint Genetics
Finland
4239
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anemia Panel

Blueprint Genetics
Finland
278
  • 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

Autosomal recessive osteopetrosis type 4

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Osteopetrosis autosomal dominant type 2

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

CLCN7 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
557182
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51304674
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Results: 61 to 78 of 78

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.