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Single-gene and single-site tests

The right test for the right patient

There are some instances where single-gene or single syndrome testing may be preferred over a larger genetic testing panel. This is especially true when a patient’s diagnosis or family history is very suggestive for a certain syndrome or there is a known familial variant.

Single-site test

Single-site testing is available when there is a known variant in the family. This test is available for any of the 66 genes on our Comprehensive Hereditary Cancer Panel.

Test name

Test code

GSP or CPT coding

FAQ

Hereditary Cancer Single Site(s)
APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A (p16, p14), CHEK2, DICER1, EGFR, EPCAM, FANCA, FANCC, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11 (MRE11A), MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RECQL, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2

93945

Please call Genomic Client Services 1.866.GENE.INFO (1.866.436.3463) for more information

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Single-gene test

We have added single-gene tests for specific instances when a patient’s personal and/or family history points to a specific gene instead of a broader evaluation.

Test name

Test code

GSP or CPT coding

FAQ

APC Sequencing and Deletion/Duplication

93797

81201, 81203

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ATM Sequencing and Deletion/Duplication

38802

81408, 81479

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BAP1 Sequencing and Deletion/Duplication

38803

81479

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BLM Sequencing and Deletion/Duplication

38804

81479

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CDH1 Sequencing and Deletion/Duplication

92568

81406, 81479

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CDKN2A Sequencing and Deletion/Duplication

93939

81404, 81479

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CHEK2 Sequencing and Deletion/Duplication

93940

81479

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Lynch Syndrome, MSH2 Sequencing and Deletion/Duplication (Including EPCAM)

91471

81295, 81297, 81403

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FH Gene Sequencing and Deletion/Duplication

38805

81405, 81479

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FLCN Sequencing and Deletion/Duplication

38806

81479

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HOXB13 Sequencing and Deletion/Duplication

38807

81479

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MEN1 Sequencing and Deletion/Duplication

93942

81405, 81404

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MITF Gene Analysis

38808

81479

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Lynch Syndrome, MLH1 Sequencing and Deletion/Duplication

91460

81292, 81294

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Lynch Syndrome, MSH6 Sequencing and Deletion/Duplication

91458

81298, 81300

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MUTYH Sequencing and Deletion/Duplication

93944

81406, 81479

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NF1 Sequencing and Deletion/Duplication

93941

81408, 81479

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PALB2 Sequencing and Deletion/Duplication

92571

81307, 81479

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Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication

91457

81317, 81319

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PTEN Sequencing and Deletion/Duplication

92566

81321, 81323

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RET Sequencing and Deletion/Duplication

93796

81406, 81479

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SMARCA4 Sequencing and Deletion/Duplication

38809

81479

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STK11 Sequencing and Deletion/Duplication

92565

81405, 81404

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Li-Fraumeni Syndrome, TP53 Sequencing and Deletion/Duplication

92560

81351, 81479

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VHL Sequencing and Deletion/Duplication

93943

81404, 81403

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Hereditary cancer genetic testing guide

Download our hereditary cancer reference guide for an overview of our tests, genes included in each test, and associated cancers (gene association based on guidelines and internal data).
hereditary-chart-cta

Test codes may vary by location. Please contact your local laboratory for more information.

Components of panels may be ordered separately.

The CPT® codes provided are based on American Medical Association guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Helping you understand test results

We have created reports to help you and your patients better understand hereditary cancer test results.
hereditary-cancer-cta-image-bottom

Only a patient’s treating physician can make diagnoses, prognostic or treatment decisions based on the knowledge of the patient, history and clinical/educational experience. Quest lab testing provides information for the physician to use in helping make such decisions.

Questions? Connect with a team member.

Please talk to your Quest representative for ordering information on our comprehensive portfolio of hereditary cancer test offerings.

Contact us