GTR Home > Tests > Search results - Shprintzen-Goldberg syndrome

Apply filters

Showing test for 1 condition

reset

Compare labs

Your search term can be found in tests with a total of 1647 conditions. Only 1000 conditions are displayed in this filter box. Please type the name of the condition in the search box in this filter to find the specific condition. You can use the filters below to narrow down your results.
If the name of the condition you typed is not present, please try another query or search using the All GTR tab.

  • Hide states

GTR test search results for C1321551[DISCUI]

C Clinical test, R Research test

Showing 1 to 20 of 30 tests for 1 condition in 13 labs

CShprintzen-Goldberg syndrome

Lab: Centogene AG - the Rare Disease Company Centogene AG Rostock, Mecklenburg-Vorpommern, Germany
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CMarfan Syndrome, Type 2 - TGFBR1 Gene

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (5)

CMarfan Syndrome, Type 2 - TGFBR2 Gene

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (5)

CMarfan Syndrome - FBN1 Gene

Test targets
Methods
  • C Sequence analysis of the entire coding region

CMarfan Syndrome, FBN1 Seq, Del/Dup

Lab: Molecular Genetics Laboratory ARUP Laboratories Salt Lake City, Utah, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (8)

CMarfan Syndrome (FBN1) Sequencing

Lab: Molecular Genetics Laboratory ARUP Laboratories Salt Lake City, Utah, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (8)

CLow Bone Mass Panel (MitomeNGS)

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (40)
Total targets (22)

CFBN1 Gene Sequencing

Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (5)

CFBN1 Sequence Analysis

Test targets
Methods
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis
Total conditions (8)

CFBN1 Comprehensive - Sequence & Deletion/Duplication Analysis

Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (8)

CShprintzen-Goldberg syndrome via the SKI Gene

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region

CMarfan Syndrome and Related Aortopathies NextGen Sequencing Panel

Lab: PreventionGenetics Marshfield, Wisconsin, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (19)
Total targets (14)

CAortopathy Deletion/Duplication, 17 Genes

Lab: Molecular Genetics Laboratory ARUP Laboratories Salt Lake City, Utah, United States
Total conditions (20)
Total targets (17)

CAortopathy Sequencing, 17 Genes

Lab: Molecular Genetics Laboratory ARUP Laboratories Salt Lake City, Utah, United States
Test targets
Methods
  • C Sequence analysis of the entire coding region
Total conditions (19)
Total targets (16)

CAortopathy Panel, Sequencing and Deletion/Duplication, 17 Genes

Lab: Molecular Genetics Laboratory ARUP Laboratories Salt Lake City, Utah, United States
Test targets
Methods
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
Total conditions (20)
Total targets (17)

CMarfan Syndrome, FBN1 Del/Dup

Lab: Molecular Genetics Laboratory ARUP Laboratories Salt Lake City, Utah, United States
Test targets
Methods
  • D Deletion/duplication analysis
Total conditions (8)

CShprintzen-Goldberg syndrome (sequence analysis of SKI gene)

Lab: CGC Genetics Porto, Porto, Portugal
Test targets
Methods
  • C Sequence analysis of the entire coding region

Showing 1 to 20 of 30 tests for 1 condition in 13 labs

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.

Write to the Help Desk