Clinical and research tests for C0026847 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 127

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spinal Muscular Atrophy (SMA) Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	D Deletion/duplication analysis
Congenital Hypotonia Evaluation GeneDx United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 300 PLUS Panel Integrated Genetics Westborough LabCorp United States	172	350	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Inheritest CF / SMA Panel Integrated Genetics Westborough LabCorp United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inheritest Core Panel Integrated Genetics Westborough LabCorp United States	3	3	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 14-gene panel Integrated Genetics Westborough LabCorp United States	15	14	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest High Frequency panel Integrated Genetics Westborough LabCorp United States	109	110	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 100 PLUS panel Integrated Genetics Westborough LabCorp United States	115	142	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Spinal Muscular Atrophy (SMA) Integrated Genetics Westborough LabCorp United States	1	1	D Deletion/duplication analysis
Spinal Muscular Atrophy (SMA), fetal analysis Integrated Genetics Westborough LabCorp United States	1	1	D Deletion/duplication analysis
MLPA for Spinal Muscular Amyotrophy (SMA) Mendelics Brazil	1	2	D Deletion/duplication analysis
Spinal Muscular Atrophy (post-MLPA SMN1 NGS sequencing) Mendelics Brazil	1	2	C Sequence analysis of the entire coding region
M Beacon Focus B; 14 Genes Fulgent Genetics United States	17	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Carrier Screen; 3 Genes Fulgent Genetics United States	5	3	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.

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Results: 21 to 40 of 127

Results: 21 to 40 of 127