Clinical and research tests for C4721429 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NKX2-1 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	3	1	C Sequence analysis of the entire coding region
Invitae Surfactant Metabolism Panel Invitae United States	40	19	D Deletion/duplication analysis
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Neonatal Respiratory Distress Panel PreventionGenetics, part of Exact Sciences United States	7	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thyroid cancer, monmedullary, 1, 188550, Autosomal dominant; NMTC1 (Differentiated thyroid carcinoma) (NKX2-1 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
Thyroid cancer, monmedullary, 1, 188550, Autosomal dominant; NMTC1 (Differentiated thyroid carcinoma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
KRAS, BRAF, and NRA Mutation Analysis PathGroup United States	23	3	T Targeted variant analysis
BRAF and MSI Mutation Analysis PathGroup United States	15	1	I Microsatellite instability testing (MSI) T Targeted variant analysis
KRAS, BRAF, NRAS and MSI Mutation Analysis PathGroup United States	23	3	T Targeted variant analysis
BRAF, NRAS, KIT Mutation Analysis PathGroup United States	16	3	T Targeted variant analysis
BRAF, EGFR, KRAS Mutation Analysis PathGroup United States	25	3	T Targeted variant analysis
Basic Lung Profile PathGroup United States	15	2	T Targeted variant analysis
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	C Sequence analysis of the entire coding region
Panel of surfactant dysfunction and neonatal respiratory distress Genologica Medica Spain	7	5	C Sequence analysis of the entire coding region
Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes. Genologica Medica Spain	42	21	C Sequence analysis of the entire coding region
Interstitial lung disease panel. 25-gene NGS panel. Genologica Medica Spain	40	25	C Sequence analysis of the entire coding region
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region
Lung Surfactant Deficiency. Panel NGS genes: ABCA3, FOXF1, NKX2-1, SFTPB, SFTPC. Genologica Medica Spain	7	5	C Sequence analysis of the entire coding region
Thyroid cancer, nonmedullary: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	7	C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.

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Results: 1 to 20 of 20

Results: 1 to 20 of 20