Invitae Metabolic Non-Immune Fetal Hydrops Panel - Clinical Genetic Test - GTR

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Invitae Metabolic Non-Immune Fetal Hydrops Panel

Clinical Genetic Test

offered by

Labcorp Genetics (formerly Invitae)

View lab's test page

GTR Test Accession: GTR000569466.1

INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more

Registered in GTR: 2019-10-31

Last annual review date for the lab: 2023-10-10 Past due

At a Glance

Test purpose:

Diagnosis

Conditions (50):

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase; 3-Methylglutaconic aciduria type 2; ALG1-congenital disorder of glycosylation more...

Genes (51):

AHCY (20q11.22); ALG1 (16p13.3); ALG12 (22q13.33); ALG8 (11q14.1); ALG9 (11q23.1) more...

Methods (2):

Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...

Target population:

The Invitae Metabolic Causes of Non-Immune Fetal Hydrops Panel analyzes …

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

Labcorp Genetics (formerly Invitae)
View lab's website
View lab's test page

Specimen Source:

Isolated DNA
Peripheral (whole) blood
Saliva
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician
Nurse Practitioner
Physician Assistant
Registered Nurse

Test Order Code:

06229

How to Order:

Tests can be ordered online or by submitting a paper requisition form.
Order URL

Informed consent required:

Decline to answer

Test strategy:

Full gene sequencing and deletion/duplication analysis of targeted gene

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Lab contact for this test, Contact policy, Test development

Conditions

Total conditions: 50

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 51

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

Methodology

Total methods: 2

Method Category

Test method

Instrument *

Deletion/duplication analysis

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

Sequence analysis of the entire coding region

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

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis

Target population:

The Invitae Metabolic Causes of Non-Immune Fetal Hydrops Panel analyzes up to 53 genes that are associated with metabolic conditions that may include a prenatal onset presentation of fetal hydrops (hydrops fetalis), edema, or ascites. Nonimmune hydrops fetalis (NIHF) comprises the subgroup of cases not caused by red cell alloimmunization. … View more

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more

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

Will the lab re-contact the ordering physician if variant interpretation changes?
Yes.

Recommended fields not provided:

Clinical validity, Clinical utility, 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:

Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.

Assay limitations:

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in … Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome. GENE TRANSCRIPT REFERENCE SEQUENCING ANA View more

View citations (1)

https://www.invitae.com/en/physician/tests/06229/#info-panel-assay_information

Proficiency testing (PT):

Is proficiency testing performed for this test?
No

VUS:

Laboratory's policy on reporting novel variations
Novel variations are described in our clinical report to the ordering clinician. The report documents the evidence and logic supporting the interpretation of any novel variations.

Recommended fields not provided:

Test Confirmation, 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 AHCY variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Practice guidelines:

Consumer resources:

MedlinePlusGenetics (GHR)

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.