Clinical and research tests for C4225399 - Genetic Testing Registry (GTR)

Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NPR2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Overgrowth Syndromes Panel Invitae United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Short stature with nonspecific skeletal abnormalities, 616255, Autosomal dominant; SNSK (NPR2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Short stature with nonspecific skeletal abnormalities, 616255, Autosomal dominant; SNSK (NPR2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States	79	54	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NPR2 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain	83	27	C Sequence analysis of the entire coding region
Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	82	60	C Sequence analysis of the entire coding region
Invitae Overgrowth and Macrocephaly Syndromes Panel Invitae United States	43	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasia Asper Biogene Asper Biogene LLC Estonia	166	74	C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.

Filters

Test type

Test purpose

Test method

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 1 to 15 of 15

Results: 1 to 15 of 15