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Results: 1 to 20 of 40169

Tests names and labsConditionsGenes, analytes, and microbesMethods

SMA Carrier by Del/Dup

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • D Deletion/duplication analysis

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

Mayo Clinic Laboratories Mayo Clinic
United States
3940
  • C Sequence analysis of the entire coding region

Mitochondrial genome panel

Centogene AG - the Rare Disease Company
Germany
137
  • C Sequence analysis of the entire coding region

Exome Sequencing

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

Schaaf-yang syndrome testing (MAGEL2)

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oculodentodigital dysplasia testing (GJA1)

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

Marshall-smith syndrome testing (NFIX)

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IMAGe syndrome testing (CDKN1C)

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Facial Dysostosis Panel

Genetic Services Laboratory University of Chicago
United States
1418
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short syndrome testing (PIK3R1)

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

Rhizomelic Chondrodysplasia Punctata Panel

Genetic Services Laboratory University of Chicago
United States
39
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Widemann-steiner syndrome testing (KMT2A)

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

Neonatal Diabetes Panel

Genetic Services Laboratory University of Chicago
United States
317
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MODY Panel

Genetic Services Laboratory University of Chicago
United States
1015
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperinsulinism Panel

Genetic Services Laboratory University of Chicago
United States
1324
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nicolaides-baraitser syndrome testing (SMARCA2)

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

Neuronal Ceroid-Lipofuscinoses Panel

Genetic Services Laboratory University of Chicago
United States
1113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NBIA Panel

Genetic Services Laboratory University of Chicago
United States
913
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Arthrogryposis Panel

Genetic Services Laboratory University of Chicago
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40169

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.