Cerebrooculofacioskeletal syndrome 1, 214150, Autosomal recessive; COFS1 (ERCC6 gene) (Sequence Analysis-All Coding Exons) (Postnatal) - Clinical Genetic Test - GTR

Cerebrooculofacioskeletal syndrome 1, 214150, Autosomal recessive; COFS1 (ERCC6 gene) (Sequence … see more Cerebrooculofacioskeletal syndrome 1, 214150, Autosomal recessive; COFS1 (ERCC6 gene) (Sequence Analysis-All Coding Exons) (Postnatal) see less

Clinical Genetic Test

offered by

Intergen

GTR Test Accession: GTR000585268.1

INHERITED DISEASEOPHTHALMOLOGYMETABOLIC DISEASE ... View more

Last updated in GTR: 2020-05-19

Last annual review date for the lab: 2022-05-14 Past due

At a Glance

Test purpose:

Diagnosis

Conditions (1):

Cerebrooculofacioskeletal syndrome 1

Genes (1):

ERCC6 (10q11.23)

Methods (1):

Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)

Target population:

Cerebrooculofacioskeletal syndrome 1, 214150, Autosomal recessive; COFS1 (diagnosis/ clinical suspition/ …

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

Intergen
View lab's website

Test Order Code:

2885

Informed consent required:

Decline to answer

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Sequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis

Target population:

Cerebrooculofacioskeletal syndrome 1, 214150, Autosomal recessive; COFS1 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Recommended fields not provided:

Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Sensitivity of this method was reported as 99,9996%. This value may change in some special DNA regions

Proficiency testing (PT):

Is proficiency testing performed for this test?
No

Recommended fields not provided:

Test Confirmation, 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:

Not provided

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View ERCC6 variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Consumer resources:

MalaCards

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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.