GTR Test Accession:
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GTR000562615.1
Registered in GTR:
2019-02-24
View version history
GTR000562615.1,
registered in GTR:
2019-02-24
Last annual review date for the lab: 2024-01-08
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (2):
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Nance-Horan syndrome;
Cataract 40
Genes (1):
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NHS (Xp22.2-22.13)
Methods (1):
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Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals with a personal and/or family history of Nance-Horan syndrome
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis;
Guidance for management;
Lifestyle planning; ...
Ordering Information
Offered by:
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Test short name:
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NHS
Specimen Source:
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- 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:
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NHS
Lab contact:
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Contact Policy:
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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:
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Refer to our website; standard laboratory test request form. Contact the laboratory directly for further details
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Genetic counseling
Result interpretation
Confirmation of research findings
Custom Sequence Analysis
Genetic counseling
Result interpretation
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Test strategy:
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Testing of the entire gene is available for patients symptomatic for Nance-Horan 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:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical utility:
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Establish or confirm diagnosis
Guidance for management
Lifestyle planning
Reproductive decision-making
Guidance for management
Lifestyle planning
Reproductive decision-making
Target population:
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Individuals with a personal and/or family history of Nance-Horan syndrome
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Review clinical importance described in ClinVar, HGMD, LOVD, and literature. Assessment of classification criteria specified by ACMG and clinical review team meeting.
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?
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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
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?
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Yes. Communication by way of patient specific written formal intepretive report
Yes. Communication by way of patient specific written formal intepretive report
Research:
Is research allowed on the sample after clinical testing is complete?
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Yes, and only if formal written consent has been provided.
Yes, and only if formal written consent has been provided.
Recommended fields not provided:
Clinical validity,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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DNA is extracted from the patient specimen, PCR amplification and sequence analysis of the entire coding region plus flanking intron exon boundaries. Sanger sequencing is carried out and the sequence is visualised on a capillary sequencer. Sequencing is performed separately in both the forward and reverse directions.
Test Confirmation:
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Second independently collected specimen recommended for positive diagnostic tests.
Test Comments:
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Bi-directional DNA sequencing of all exons and the intron exon boundaries of the entire NHS gene.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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:
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Large genomic rearrangements, small deletions and point mutations that remove a primer site.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
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.
Yes
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.
VUS:
Software used to interpret novel variations
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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.
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:
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in 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.