Alpha-thalassemia/mental retardation syndrome, type 1, 141750, Autosomal dominant (Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16) (Prenatal) (440) - Clinical Genetic Test - GTR

Alpha-thalassemia/mental retardation syndrome, type 1, 141750, Autosomal dominant (Alpha-thalassemia-intellectual disability … see more Alpha-thalassemia/mental retardation syndrome, type 1, 141750, Autosomal dominant (Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16) (Prenatal) (440) see less

Clinical Genetic Test

offered by

Intergen

GTR Test Accession: GTR000576591.1

SYNDROMIC DISEASEINHERITED DISEASEHEMATOLOGY ... 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):

Alpha thalassemia-intellectual disability syndrome type 1

Chromosomal regions/ Mitochondria (1):

16pter-p13.3

Methods (1):

Molecular Genetics - Deletion/duplication analysis: Microarray

Target population:

Alpha-thalassemia/mental retardation syndrome, type 1, 141750, Autosomal dominant (diagnosis/ clinical …

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

Intergen
View lab's website

Test Order Code:

936

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

Chromosomal regions/Mitochondria

Total chromosomal regions/mitochondria: 1

Chromosomal region/Mitochondrion	Associated condition

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Deletion/duplication analysis

Microarray

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis

Target population:

Alpha-thalassemia/mental retardation syndrome, type 1, 141750, Autosomal dominant (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:

Array CGH test has 99% sensitivity and 99% specificity.

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:

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.