FTL IRE mutation analysis
GTR Test Accession: Help GTR000562612.1
Last updated in GTR: 2019-02-19
Last annual review date for the lab: 2024-01-08 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Neuroferritinopathy; Hereditary hyperferritinemia with congenital cataracts; L-ferritin deficiency
Genes (1): Help
FTL (19q13.33)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Indviduals with a personal and/or family history of hyperferritinemia cataract …
Not provided
Establish or confirm diagnosis; Guidance for management; Lifestyle planning; ...
Ordering Information
Offered by: Help
Genetics and Molecular Pathology
View lab's website
View lab's test page
Test short name: Help
Specimen Source: Help
  • Amniotic fluid
  • Buccal swab
  • Buffy coat
  • Chorionic villi
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
Test Order Code: Help
Lab contact: Help
Andrew Dubowsky, Lab Director
61 8 8204 6447
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.
How to Order: Help
Refer to our website; standard laboratory test request form. Contact the laboratory directly for further details
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Genetic counseling
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Testing of the entire gene is available for patients symptomatic for hereditary hyperferritinemia cataract syndrome. Cascade testing offered to family members for Class 4 and 5 variants, segregation studies offered for Class 3 variants.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 3
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
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Clinical utility: Help
Establish or confirm diagnosis
Guidance for management
Lifestyle planning
Predictive risk information for patient and/or family members
Reproductive decision-making
Target population: Help
Indviduals with a personal and/or family history of hyperferritinemia cataract syndrome
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Review clinical importance described in ClinVar, HGMD, LOVD, and literature. Assessment of classification criteria specified by ACMG and clinical review team meeting.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No. "Referral to a clinical genetics service is recommended. Predictive testing is currently NOT recommended using this variant for assessing disease risk. Sanger sequencing to confirm this variant and analysis of parental samples may help to further elucidate the clinical significance of this variant. If required, please send the parental samples … View more

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Communication by way of patient specific written formal intepretive report
Is research allowed on the sample after clinical testing is complete? Help
Yes, and only if formal written consent has been provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
DNA is extracted from the patient specimen, PCR amplification and sequence analysis of the exon 1 iron responsive element and upstream genomic sequence of the FTL gene. Sanger sequencing is carried out and the sequence is visualised on a capillary sequencer. Sequencing is performed separately in both the forward and … View more
Test Confirmation: Help
Second independently collected specimen recommended for positive diagnostic tests.
Test Comments: Help
Bi-directional DNA sequencing of the iron response element which controls expression of the FTL gene
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Proficiency Testing, both external and internal. Sanger of PCR fragments at an the error rate is less than 0.01% (99.99% accuracy). Technical specificity for all methods used in our lab estimated at > 99.5% and technical sensitivity > 99.5%. Mutation detection reproducibility for Sanger sequencing is 100%.
Assay limitations: Help
Large genomic rearrangements, small deletions and point mutations that remove a primer site.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
General module for PCR amplification and bidirectional sequencing of samples provided - NB not gene specific.
Software used to interpret novel variations Help
Alamut Visual, plus supplemented with a number of online tools.

Laboratory's policy on reporting novel variations Help
Detailed interpretative report provided for Class 3, 4, and 5, however Class 3 (VUS) only reported where patient has elected to know about identification of VUS. Class 1 and 2 variants are not reported.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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