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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

MPS (Eight) Panel, BS

Mayo Clinic Laboratories Mayo Clinic
United States
1010
  • A Analyte

MPS (Nine) Panel, WBC

Mayo Clinic Laboratories Mayo Clinic
United States
1110
  • A Analyte

Mucopolysaccharidosis, B

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Mucopolysaccharidosis, BS

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoXome MOx (Whole Exome Sequencing)

Centogene AG - the Rare Disease Company
Germany
1319
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

CentoMPS

Centogene AG - the Rare Disease Company
Germany
18
  • A Analyte

CentoLSD

Centogene AG - the Rare Disease Company
Germany
1218
  • A Analyte

CentoLSD MOx

Centogene AG - the Rare Disease Company
Germany
1236
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMPS MOx

Centogene AG - the Rare Disease Company
Germany
115
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Skeletal disorders - different panels

Institute of Human Genetics Cologne University
Germany
875
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
15102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC26A1 Single Gene

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HYAL1 Single Gene

Fulgent Genetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.