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Results: 1 to 20 of 845

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoArray

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • U Uniparental disomy study (UPD)

CentoGenome (Whole Genome Sequencing)

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoXome (Whole Exome Sequencing)

Centogene AG - the Rare Disease Company
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

IriSight™ Comprehensive Analysis - Pregnancy Loss

Variantyx, Inc.
United States
32
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

IriSight™ Comprehensive Analysis - Prenatal Proband

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Genomic Unity Whole Genome Analysis (includes STR analysis of 36 loci) - Proband

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Genomic UnityⓇ Comprehensive Mitochondrial Disorders Analysis

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity Exome Plus Analysis (includes STR analysis of 36 loci) - Proband

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Whole Exome and Mitochondrial Genome Sequencing, WESMT

Mayo Clinic Laboratories Mayo Clinic
United States
12
  • C Sequence analysis of the entire coding region

Genomic Unity Whole Genome Analysis (includes STR analysis of 36 loci) - Comparator

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Genomic Unity Exome Plus Analysis (includes STR analysis of 36 loci) - Comparator

Variantyx, Inc.
United States
12
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MNG Exome Proband Only Sequencing + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MNG Exome Trio Sequencing + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

G-Banded Chromosome Analysis

Cytogenetics Laboratory University of Washington
United States
166
  • K Karyotyping

Exome Sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Uniparental Disomy

Mayo Clinic Laboratories Mayo Clinic
United States
61
  • U Uniparental disomy study (UPD)

Karyotype

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • K Karyotyping

qPCR

Clinical Cytogenetics Laboratory LabCorp
United States
11
  • T Targeted variant analysis

SNP based chromosomal microarray

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
51
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • U Uniparental disomy study (UPD)

Comparative genomic hybridization (aCGH-SNP)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
41
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • U Uniparental disomy study (UPD)

Results: 1 to 20 of 845

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.