Hereditary Cancer Single Gene Tests

We offer a comprehensive menu of hereditary cancer single gene testing options, including analysis of 62 different genes.

Our single gene options offer you flexibility to meet clinical needs. For our single gene test options, full gene sequencing and gross deletion/duplication analysis is performed for all genes (with the exception of EPCAM, GREM1, MITF, POLD1, POLE, and RET). Specific Site Analysis is also available for individual gene mutations identified in a family.

Single Gene Test Options
TEST CODE
 
TEST NAME
 
TURNAROUND TIME
(calendar days)
9018 AIP gene sequence and deletion/duplication 14-21
9020 ALK gene sequence and deletion/duplication  14-21
3040 APC gene sequence and deletion/duplication analysis 14-21 
9014 ATM gene sequence and deletion/duplication analysis 14-21
9044 BAP1 gene sequence and deletion/duplication analysis 14-21
9002 BARD1 gene sequence and deletion/duplication analysis 14-21
8838 BRCA1/BRCA2  gene sequence and deletion/duplication analysis 6-10
9000 BRIP1 gene sequence and deletion/duplication analysis 14-21
8604 BMPR1A/SMAD4 gene sequence and deletion/duplication analysis 14-21
4726 CDH1 gene sequence and deletion/duplication analysis 10-21
9022 CDKN1B gene sequence and deletion/duplication 14-21
4708 CDKN2A/CDK4 gene sequence and deletion/duplication analysis 14-21
9016 CHEK2 gene sequence and deletion/duplication analysis 14-21
5260 DICER1 gene sequence and deletion/duplication analysis 14-21
8519 EPCAM deletion/duplication analysis 14-21
6301 FH gene sequence and deletion/duplication analysis 14-21
5921 FLCN gene sequence and deletion/duplication analysis  14-21
8878 GREM1 duplication analysis 14-21
9062 MAX gene sequence and deletion/duplication analysis 14-21
2646 MEN1 gene sequence and deletion/duplication  analysis 14-21
8880 MET gene sequence and deletion/duplication analysis 14-21
9046 MITF specific site analysis 14-21
8508 MLH1 gene sequence and deletion/duplication analysis 14-21
9004 MRE11A gene sequence and deletion/duplication analysis 14-21
8510 MSH2 gene sequence and deletion/duplication analysis, MSH2 inversion analysis, and EPCAM deletion/duplication analysis 14-21
8512 MSH6 gene sequence and deletion/duplication analysis 14-21
4661  MUTYH gene sequence and deletion/duplication analysis 14-21
9006 NBN gene sequence and deletion/duplication analysis 14-21
5704 NF1 gene sequence and deletion/duplication analysis 14-21
9024 NF2 gene sequence and deletion/duplication 14-21
2366 PALB2 gene sequence and deletion/duplication analysis 14-21
4646 PMS2 gene sequence and deletion/duplication analysis 14-21
8877 POLD1/POLE gene sequence analysis 14-21
9032 POT1 gene sequence and deletion/duplication 14-21
9312 PHOX2B gene sequence and deletion/duplication 14-21
9038 PRKAR1A gene sequence and deletion/duplication 14-21
5684 PTCH1 gene sequence and deletion/duplication analysis 14-21
2106 PTEN gene sequence and deletion/duplication analysis 14-21
9008 RAD50 gene sequence and deletion/duplication analysis 14-21
9010 RAD51C gene sequence and deletion/duplication analysis 14-21
9012 RAD51D gene sequence and deletion/duplication analysis 14-21
5426 RB1 gene sequence and deletion/duplication analysis 14-21
2680 RET gene sequence  14-21
9052 SDHA gene sequence and deletion/duplication analysis 14-21
9060 SDHAF2 gene sequence and deletion/duplication analysis 14-21
9054 SDHB gene sequence and deletion/duplication analysis 14-21
9056 SDHC gene sequence and deletion/duplication analysis 14-21
9058 SDHD gene sequence and deletion/duplication analysis 14-21
9028 SMARCA4 gene sequence and deletion/duplication analysis 14-21
7180 SMARCB1 gene sequence and deletion/duplication 14-21
9048 SMARCE1 gene sequence and deletion/duplication 14-21
2766 STK11 gene sequence and deletion/duplication analysis 10-21
9050 SUFU gene sequence and deletion/duplication 14-21
9066 TMEM127 gene sequence and deletion/duplication analysis 14-21
2866 TP53 gene sequence and deletion/duplication analysis 10-21
5904 TSC1/TSC2 gene sequence and deletion/duplication analysis 14-21
2606 VHL gene sequence and deletion/duplication analysis

14-21

 

Test Description 
Note: This test description applies to all single genes tests with the exception of BRCA1, BRCA2, CDH1, EPCAM, GREM1, POLD1/POLE,  RB1, RET, STK11 and TP53. For more details regarding these genes, please visit their respective test-specific web pages (all links are in above table). 

All coding exons and well into the 5’ and 3’ ends of all the introns and untranslated regions of each gene (except MITF) are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for all coding exons. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Suspect variant calls are verified by Sanger sequencing. For MITF, only the status of the c.952G>A (p.E318K) alteration is analyzed and reported. Gross deletion/duplication analysis of each gene using read-depth from NGS data is also performed. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray and/or multiplex ligation-dependent probe amplification (MLPA).

Specimen Requirements 
Complete specimen requirements are available here or by downloading the PDF found above on this page.