Targeted Testing

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New York State Approved Test

Targeted Variants (Test #100, 200, 300, 990, 1400, 14028)

Indications For Test

Candidates for this test are:

Family members who may have familial pathogenic variants.
Patients wishing to confirm research results.
Setting phase of variants.
Clarifying interpretation of variants.

We offer single (Test Code 100), double (Test Code 200), or triple (Test Code 300) variant sequencing for any of the genes on our test menu. Prenatal testing (Test Code 990) is also available; for more information click here. Targeted testing for relatives of patients who were identified to have a copy number variant is available via various methodologies, see additional details below. Targeted mitochondrial testing is available via Test Code 14028.

Indications For Test

Candidates for this test are:

Family members who may have familial pathogenic variants.
Patients wishing to confirm research results.
Setting phase of variants.
Clarifying interpretation of variants.

Test #100, 200, 300, 990

Prenatal	Enter a Gene Name	Number of Variants	CPT Code

Mitochondrial Genome via NGS

To order family follow-up for mitochondrial genome via NGS, please order Test Code 14028, price $590. Only the variant of interest (VOI) will initially be reported, but reflexing to the entire mitochondrial genome is available upon request for no additional charge.

Test #14028

Enter a Gene Name	PG ID/Proband Details	CPT Code

Deletions/Duplications via aCGH

Targeted testing (Test Code 1400) for gross deletions/duplications discovered by aCGH will be available for family members of the proband only if we are able to test the del/dup by PCR. If this is not possible, then the full gene deletion/duplication test (Test Code 600) may be necessary. Please contact us if you have questions about ordering family studies for deletions/duplications.

Test #1400

Enter a Gene Name	PG ID/Proband Details	CPT Code

Pricing

As of 2/15/23

Test Code	# of Variants	Price	Stat Price
100	1	$350	$437.5
200	2	$520	$650
300	3	$620	$775
Prenatal - 990	1 - 3	$990	$1237.5
1400	Del/Dup	$340	$425

A patient prompt pay discount of 10% is available if payment is made by the patient and received prior to the time of reporting.

Family Targeted Variant Testing

PreventionGenetics offers no-cost targeted testing in certain situations. See our Family Targeted Variant Testing Policy for more information.

Ordering

Turnaround Time

Targeted Sanger Sequencing tests are completed within 4 weeks on average for standard orders or 2 weeks on average for STAT orders.. STAT testing incurs a 25% surcharge. STAT TAT is the default for Targeted prenatal testing (Test Code 990).

Order through the myPrevent portal or see our Targeted Variant Test Requisition Form on our Forms page.

Positive Controls

Prenatal testing requests for targeted variants requires positive controls. For other test requests, if a positive control is not provided, negative results will carry a limitation stating that PreventionGenetics did not have the opportunity to verify that we can detect the variant in this family.

Please label the sample and Test Requisition Form: "POSITIVE CONTROL ONLY-No Report". We will not issue a report for samples submitted as positive controls. Please include the outside laboratory report.

Prenatal Testing

Please see our Prenatal Policy for details of prenatal testing. If Test Code 990 is ordered (Targeted Prenatal Variants), parents are offered testing at no charge.