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Results: 21 to 40 of 71

Tests names and labsConditionsGenes, analytes, and microbesMethods

Macrocephaly Panel

Genetic Services Laboratory University of Chicago
United States
2668
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodevelopmental Disorders Panel

Baylor Genetics
United States
1236
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Macrosomic syndromes (WES based NGS panel of 35 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
135
  • C Sequence analysis of the entire coding region

Macrocephaly (WES based NGS panel of 16 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
116
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders Panel

CGC Genetics Unilabs
Portugal
1107
  • C Sequence analysis of the entire coding region

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Sotos syndrome (deletion/duplication analysis on NSD1 and NFIX genes)

CGC Genetics Unilabs
Portugal
12
  • D Deletion/duplication analysis

Sotos syndrome 2 (sequence analysis of NFIX gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Clinically Recognized Syndromes Panel

Mendelics
Brazil
1236
  • C Sequence analysis of the entire coding region

HEREDITARY CANCER EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1249
  • E Sequence analysis of select exons

MACROCEPHALY AND OVERGROWTH SYNDROMES EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
180
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

Sotos syndrome panel. Panel NGS genes: APC2, NFIX, NSD1.

Genologica Medica
Spain
53
  • C Sequence analysis of the entire coding region

Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel.

Genologica Medica
Spain
8843
  • C Sequence analysis of the entire coding region

Sotos syndrome panel

Genologica Medica
Spain
53
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Macrocephaly/Overgrowth

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
143
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Overgrowth Panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
145
  • E Sequence analysis of select exons

Results: 21 to 40 of 71

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.