Clinical and research tests for 161200 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Nail-patella syndrome, 161200, Autosomal dominant; NPS (Nail-patella syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Nail-patella syndrome, 161200, Autosomal dominant; NPS (Nail-patella syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Nail-patella syndrome, 161200, Autosomal dominant; NPS (Nail-patella syndrome) (LMX1B 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
Nail-patella syndrome, 161200, Autosomal dominant; NPS (Nail-patella syndrome) (LMX1B gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
FSGS/Nephrotic Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	25	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qChip 1M Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k post-natal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 400 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
LMX1B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	81	57	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Glaucoma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	57	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Invitae Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	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.