Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (MLPA) - Clinical Genetic Test - GTR

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal … see more Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (MLPA) see less

Clinical Genetic Test

offered by

Intergen

GTR Test Accession: GTR000586714.1

MUSCULOSKELETALDYSMORPHOLOGYSYNDROMIC DISEASE ... View more

Registered in GTR: 2020-05-19

Last annual review date for the lab: 2024-11-15

At a Glance

Test purpose:

Diagnosis

Conditions (1):

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Genes (1):

POR (7q11.23)

Methods (1):

Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)

Target population:

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal …

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

Intergen
View lab's website

Test Order Code:

1246

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 *

Deletion/duplication analysis

Multiplex Ligation-dependent Probe Amplification (MLPA)

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis

Target population:

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (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:

MLPA has greater than 99% sensitive for detecting deletion and duplication variants in case of more than one prob is in the affected area. Sensitivity reduces to 95% for the CNV's detected just one prob. Copy number changes detected by only a single probe always require validation by another method.

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:

Genereviews

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View POR variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Consumer resources:

Genetic Alliance

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.