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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

RPS14 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SNP Microarray Analysis (Chromosomal Microarray)

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
4521
  • D Deletion/duplication analysis
  • H Detection of homozygosity

5-Cell Confirmation Chromosome Analysis, Tissue

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

5-Cell Confirmation Chromosome Analysis, Amniotic Fluid

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

5-Cell Confirmation Chromosome Analysis, Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis (High Resolution), Cord Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis, Amniotic Fluid

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

STAT Chromosome Analysis, Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis, Tissue (Postnatal, POC, or Autopsy)

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis (High Resolution), Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

CHROMOSOME 5q DELETION SYNDROME (Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality) (Prenatal) (440)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality) (FISH)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • F Fluorescence in situ hybridization (FISH)

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Results: 1 to 15 of 15

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.