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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Spondyloepiphyseal dysplasia tarda, X-linked Sequencing test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Spondyloepiphyseal dysplasia tarda, X-linked Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Spondyloepiphyseal dysplasia tarda, X-linked Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Invitae Congenital Disorders of Glycosylation Panel Invitae United States | 203 | 152 |
|
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 240 | 171 |
|
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via the TRAPPC2 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
|
TRAPPC2 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
|
Spondyloepiphyseal Dysplasia Tarda: gene deletion/duplication CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Spondyloepiphyseal Dysplasia Tarda: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Spondyloepiphyseal Dysplasia Tarda, Sequencing TRAPPC2 Gene Reference Laboratory Genetics Spain | 1 | 1 |
|
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel CeGaT GmbH Germany | 27 | 27 |
|
X-linked spondyloepiphyseal dysplasia congenita Bioarray Spain | 1 | 1 |
|
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.