Blackfan-Diamond anemia panel. NGS panel of 11 genes.
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000597047.1
- Last updated: 2021-11-30
- Annual Review past due read more
- Test version history
- 597047.1, last updated: 2021-11-30
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Complete trisomy 21 syndrome
Offered by Genologica Medica
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Blackfan-Diamond anemia panel. NGS panel of 11 genes. (Blackfan-Diamond anemia panel. NGS panel of 11 genes.)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
In the case of prenatal samples or samples that require special urgency, it must be indicated as such so that the procedure and response times are modified, incorporating an emergency protocol. Types of samples: - Peripheral blood> 5 ml> A 5 ​​ml tube with EDTA. - Chorionic villi> 5-6 mg Approx. > Sterile container with saline solution and antibiotic. - Amniotic fluid> 18 ml> In two 10 ml tubes - Abortive remnants> Biopsy of 1 cm3 of the abortifacient remnant> Sterile container with saline solution - Genomic DNA> 1 ug> One sterile 1.5 ml tube with 10 mM TRIS solution - Saliva> 1-2 ml> Oragene DNA OG-500 Collecto. General conditions for the transport of samples. In general terms, samples destined for genetic studies should be kept at room temperature between 15 and 28ºC, both during collection and transport. However, the specific transport characteristics are detailed in the technical sheets for each of the tests that are included in the technical characteristics. Some of these features are Samples at room temperature: Samples must remain at a temperature between 15 and 28ºC during transport. Refrigerated samples: Place one or more thermal accumulators, depending on the size of the box. Thermal accumulators must remain in a freezer for 4 to 6 hours before use. Frozen samples: VERY IMPORTANT: Submit an aliquot for each of the requested tests that require freezing.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://genologica.com/
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Custom Sequence Analysis
- Genetic counseling
- NSGC, 2021National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening
- ACMG ACT, 2021American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 21/Down syndrome: Positive Cell Free DNA Screen, 2021
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