Donohue syndrome
GTR Test Accession: Help GTR000592937.1
Last updated in GTR: 2021-04-08
Last annual review date for the lab: 2022-11-28 Past due LinkOut
At a Glance
Pre-symptomatic; Mutation Confirmation; Diagnosis
Leprechaunism syndrome
Genes (1): Help
INSR (19p13.2)
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Not provided
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Ordering Information
Offered by: Help
Molecular Genetics Laboratory - Diagnostics Genetics
View lab's website
View lab's test page
Specimen Source: Help
  • Sputum
  • Amniocytes
  • Urine
  • Fetal blood
  • Fibroblasts
  • Serum
  • Fresh tissue
  • White blood cell prep
  • Cord blood
  • Cystic hygroma fluid
  • Paraffin block
  • Peripheral (whole) blood
  • Dried blood spot (DBS) card
  • Buccal swab
  • Isolated DNA
  • Product of conception (POC)
  • Chorionic villi
  • Cell culture
  • Frozen tissue
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
Lab contact: Help
Duty Scientist Molecular Genetics, LabPlus, , Staff
+64-9-3074949 ext 22014
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose: Help
Pre-symptomatic; Mutation Confirmation; Diagnosis
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Recommended fields not provided:
Technical Information
Test Comments: Help
Testing within the Molecular Genetics lab is restricted to two specific mutations: c.1054_1074del (p.Thr352_Arg358del) in exon 4 and c.1610+2delT (intronic) in intron 7.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sequences (in the forward and reverse direction) of the coding regions and flanking upstream and downstream 20 bases of the adjacent introns were analysed using Variant Reporter Software. The report has used sequences that have a minimum trace score of 35 which corresponds to an average false base call … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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