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Alport syndrome
Clinical Genetic Test
Help
offered by
Clinical Genomics Unit
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GTR Test Accession: Help GTR000603766.1
NYS CLEP
IMMUNOLOGYINHERITED DISEASESYNDROMIC DISEASE ... View more
Registered in GTR: 2022-12-23
View version history
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-implantation genetic diagnosis; ...
Conditions (4): Help
Alport syndrome; Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome more...
Genes (3): Help
COL4A3 (2q36.3); COL4A4 (2q36.3); COL4A5 (Xq22.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Mainly patients wiht clinical suspicious of Polycystic Kidney Disease where …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Clinical Genomics Unit
View lab's website
View lab's test page
Test short name: Help
Alport
Manufacturer's name: Help
NEPHRO - custom panel
Specimen Source: Help
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • FFPE tumors
  • Paraffin block
  • Peripheral (whole) blood
  • Saliva
  • Skin
  • Urine
  • White blood cell prep
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
Test Order Code: Help
Alport
Lab contact: Help
Elisabeth Castellanos, PhD, Lab Director
[email protected]
+34 930331506
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
When genetic diagnosis is indicated by meeting the clinical criteria required and / or requested by the received genetic counselling, the procedure to follow is as follows: send a 25-ml blood sample during 24h post-extraction at room temperature, frozen lymphocites or DNA together with order form at laboratory address. Previous …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
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:
Test strategy
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-implantation genetic diagnosis; Pre-symptomatic
Target population: Help
Mainly patients wiht clinical suspicious of Polycystic Kidney Disease where it is needed a genetic confirmation (complete study) or in cases where the analysis is needed to detect the presence of a previously identified mutation in a family (direct study).
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Following ACMG variants classification guidelines (2016) with minor modifications, we also analyze affected tissue, perform RNA and functional analysisi, validate if the variant co-segregate with the phenotype or is de novo, analyze the variant using different in sillico programs, etc.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Mutation is detected DNA level by NGS and validated by an independent technique (Sanger). Splicing mutations that are not previously described are also validated at RNA levels if possible. Studies from patients with mosaicism two independent affected tissues from the same patient are analyzed to detect both first and second … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
>90 (n=100)
Assay limitations: Help
Deep intronic mutations, and gross rearrangements, mosaicism, other renal overlaping clinical manifestations
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Laboratory's policy on reporting novel variations Help
We report VUS as an additional annex.
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number:
Status: Exempt
Additional Information

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.