Clinical and research tests for 21 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 63

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pulmonary surfactant metabolism dysfunction (deletion/duplication analysis of ABCA3 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
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 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
CONGENITAL CATARACTS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	120	E Sequence analysis of select exons
HERMANSKY-PUDLAK SYNDROME EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	31	E Sequence analysis of select exons
Panel of surfactant dysfunction and neonatal respiratory distress Genologica Medica Spain	7	5	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
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Cataract Panel GeneDx United States	1	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pediatric lung diseases - different panels Institute of Human Genetics Cologne University Germany	3	49	C Sequence analysis of the entire coding region
Comprehensive lung panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	64	66	C Sequence analysis of the entire coding region
Neonatal Respiratory Distress panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	16	16	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 63

Results: 21 to 40 of 63