Clinical and research tests for 605555 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MT-ND5 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel (44 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	52	44	X Mutation scanning of select exons
Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	109	99	X Mutation scanning of select exons
AIP Gene Pituitary adenoma, ACTH-secreting, due to AIP germline mutation NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
AIP Gene Pituitary adenoma, growth hormone-secreting, due to AIP germline mutation NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
AIP Gene Pituitary adenoma, prolactin-secreting, due to AIP germline mutation NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Hereditary Endocrine Cancer Panel Mayo Clinic Laboratories Mayo Clinic United States	1	24	C Sequence analysis of the entire coding region
Hereditary Expanded Cancer Panel Mayo Clinic Laboratories Mayo Clinic United States	1	86	C Sequence analysis of the entire coding region
Familial isolated pituitary adenoma Molecular Genetics Laboratory North York General Hospital Canada	1	1	C Sequence analysis of the entire coding region
Comprehensive cancer panel (76 genes) Molecular Genetics Laboratory North York General Hospital Canada	1	74	T Targeted variant analysis
AIP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Multi-Cancer + RNA Panel Labcorp Genetics (formerly Invitae) LabCorp United States	142	63	D Deletion/duplication analysis
Penn Cancer Grant Panel Ambry Genetics United States	79	80	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pituitary adenoma, ACTH-secreting, 219090, Autosomal recessive (Cushing disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pituitary adenoma, prolactin-secreting, 600634 (Familial isolated pituitary adenoma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pituitary adenoma, growth hormone-secreting, 102200, Autosomal dominant, Somatic mutation (Acromegaly) (AIP 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
Pituitary adenoma, ACTH-secreting, 219090, Autosomal recessive (Cushing disease) (AIP 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
Pituitary adenoma, prolactin-secreting, 600634 (Familial isolated pituitary adenoma) (AIP 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
Invitae Familial Isolated Pituitary Adenomas Test Labcorp Genetics (formerly Invitae) LabCorp United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.