Achromatopsia panel - Clinical Genetic Test - GTR

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Achromatopsia panel

Clinical Genetic Test

offered by

Molecular Vision Laboratory

View lab's test page

GTR Test Accession: GTR000552272.3

INHERITED DISEASEOPHTHALMOLOGYNERVOUS SYSTEM ... View more

Last updated in GTR: 2021-01-15

Last annual review date for the lab: 2024-01-22

At a Glance

Test purpose:

Diagnosis; Mutation Confirmation

Conditions (8):

Achromatopsia 2; Achromatopsia 3; Achromatopsia 4 more...

Genes (6):

ATF6 (1q23.3); CNGA3 (2q11.2); CNGB3 (8q21.3); GNAT2 (1p13.3); PDE6C (10q23.33) more...

Methods (1):

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

Target population:

Not provided

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

Molecular Vision Laboratory
View lab's website
View lab's test page

Test short name:

ACHM

Specimen Source:

Cord blood
Fetal blood
Isolated DNA
Peripheral (whole) blood
Saliva
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician

Test Order Code:

http://www.molecularvisionlab.com
View other test codes

CPT codes:

81479

**AMA CPT codes notice

Contact Policy:

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

How to Order:

Blood: (1) 3-5ml in EDTA (lavender top tube); for patients under 1 year of age, we accept 1-2ml (minimum). Blood is our preferred specimen type to receive for testing. Blood Specimens should be received within 72 hours of collection if possible – maximum five days. Store specimen at ambient room temperature or refrigerate until you send; do not freeze. Extracted DNA: 10ug DNA. DNA specimens can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 5 days from collection. Saliva: Contact the lab directly at 503-227-3179 to confirm whether a saliva sample is suitable for the test you wish to order. MVL can mail collection kits and return packaging and labels. Kits are priced ‘at cost’ at $25 per kit plus domestic shipping costs. Email requests to inquiry@mvisionlab.com to receive a quote. Please note that saliva samples alone can be inadequate for testing and the lab may reach out for additional blood and/or DNA samples. Saliva can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 5 days from collection. Prenatal Specimens: Amniotic Fluid – Cell Culture: Send cultured amniocytes at room temperature: two T25 flasks, filled with media for shipment. Please continue to maintain the cell culture as a backup until results are reported. Amniotic Fluid – Direct: For faster results, if you have enough fluid for both cell culture and direct, you may send two (2) samples of direct amniotic fluid, 15–20 ml each, in sterile, securely capped plastic tubes. For third trimester samples, send a total of 45–50 ml of direct fluid. Transport promptly at room temperature. Please establish a cell culture before sending direct fluid; maintain the cell culture as a backup until results are reported. If the sample size is small, the cell culture takes precedence over the direct specimen. CVS – Cell Culture: Send cultured cells at room temperature: two T25 flasks, filled with media for shipment. Please continue to maintain the cell culture as a backup until results are reported. CVS – Direct: For faster results, only if you have enough tissue for both cell culture and direct, you may send a direct CVS specimen: at least 10–15 mg of tissue in physiologic buffered saline (PBS) in a sterile, securely capped plastic container or centrifuge tube. Clean the tissue and transport promptly at room temp. Please establish a cell culture before sending direct tissue; maintain the cell culture as a backup until results are reported. If the sample size is small, the cell culture takes precedence over the direct specimen. Maternal Cell Contamination Study (MCC): We test for maternal cell contamination, test #7, with all prenatal testing – whether amnio or CVS, whether direct or cultured specimens. If a fetal sample is contaminated with maternal cells, interpretation will be inconclusive. Please provide a maternal blood sample, 2–3 ml, either before or with the fetal sample. Send a separate 4-page Order Form for the maternal sample, and include Test #7, MCC on both the maternal and fetal Order Forms. If a maternal DNA sample is already stored in our laboratory, please contact us to ask if we need an additional specimen.

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Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously

Test additional service:

Custom mutation-specific/Carrier testing

Informed consent required:

Yes

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, Test strategy, Test development

Conditions

Total conditions: 8

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 6

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; Mutation Confirmation

Variant Interpretation:

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, Target population, 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:

More than 40 samples with known results were retested with the panel. The results are 100% repeatable.

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 CNGA3 variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Practice guidelines:

EuroGentest, 2011

Consumer resources:

Genetic Alliance

MalaCards

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.