Clinical and research tests for C3669395 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 47

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via the ARSL/ARSE Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ARSL Institute for Human Genetics University Medical Center Freiburg Germany	1	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
Chondrodysplasia punctata panel. 9-gene NGS panel. Genologica Medica Spain	14	9	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Chondrodysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Chondrodysplasia Punctata NGS Panel Fulgent Genetics United States	12	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ichthyosis NGS Panel Fulgent Genetics United States	98	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
X-Linked Chondrodysplasia Punctata 1 (ARSE Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes Reference Laboratory Genetics Spain	7	7	C Sequence analysis of the entire coding region
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Reference Laboratory Genetics Spain	72	36	C Sequence analysis of the entire coding region
CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Brachytelephalangic Chondrodysplasia Punctata , Sequencing ARSE Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Invitae ARSE-Related Chondrodysplasia Punctata Test Invitae United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Chondrodysplasia punctata Panel CeGaT GmbH Germany	6	8	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 47

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.