Services

Omics Services

Genomics
Epigenomics
Single Cell/Spatial Omics
Metagenomics
Transcriptomics
Proteomics
Bioinformatics
Pre-made Library
CLIA Lab Services
Clinical Genetic Testing
Capabilities
Resources
Promotions
Support
About Us
Let's Connect
Services

Omics Services

Research Services
Genomics
Epigenomics
Single Cell/Spatial Omics
Metagenomics
Transcriptomics
Clinical Services
CLIA Lab Services
Clinical Genetic Testing
Capabilities
Resources
Promotions
Support
About Us
Let's Connect
CLINICAL CAPABILITIES // Genetic testing

Endometrial Cancer

Identify genetic risk factors and causes of endometrial cancer.

Clinical at Psomagen

Who Would Benefit from Endometrial Cancer Genetic Testing?

1

A person with a strong family history of certain types of cancer

Determine if they carry a gene mutation that increases their risk. If they do have an inherited mutation, they might want to have screening tests to look for cancer early, or even take steps to try to lower their risk.      

2

A person already diagnosed with cancer

This is especially true if there are other factors to suggest the cancer might have been caused by an inherited mutation (such as a strong family history or if the cancer was diagnosed at a young age). Genetic testing might show if the person has a higher risk of developing cancer. It can also help other family members decide if they want to be tested for the mutation.

3

Family members of a person known to have an inherited gene mutation that increases their risk of cancer

Testing can help them know if they need screening tests to look for cancer early, or if they should take steps to try to lower their risk.

How Do I Order a Test?

A printed copy of the requisition form must be submitted with the specimen if you are not placing your order through the online portal. You can find and print a copy of the requisition form here. If you need to modify your order, please contact client services.

Endometrial Panel Best Practices

Preferred Specimen

2mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate Specimens

  • Saliva
  • Buccal swab
  • gDNA
Let's get started!

How to Ship Your Samples

Follow IATA Regulations

Please note that Psomagen sample collection kits are built to protect the samples from being damaged during transport and to comply with the International Air Transport Association (IATA) regulation. If you are using packaging other than that provided by Psomagen, please make sure to follow the "three layers of packaging" rule to avoid the risk of having the package destroyed by the courier:

  • A primary sample receptacle sealed (collection tube).
  • A leak-proof specimen bag containing absorbent material.
  • An outer packaging that meets the local postal regulations and is labeled as “Exempt Human Specimen.”

For more information please refer to page 187 of IATA Dangerous Goods Regulation.

Additional Shipment Requirements

For saliva, ship at room temperature (overnight shipping is not necessary).

For blood, we recommend using overnight shipping the same day that the blood is collected.

  • Blood can be kept at room temperature for up to 48 hours.
  • We request that blood is refrigerated no longer than two weeks.
  • Please do not freeze blood as deletion/duplication analysis is not supported for frozen or partially frozen blood.

Please ship the specimen in a crush-proof container via FedEx Priority Overnight (in accordance with the FedEx Packaging Guidelines for Clinical Samples.

Our US Shipping Address

Attn: Clinical Laboratory Testing Personnel
Psomagen Inc.
1330 Piccard Drive, Ste 103
Rockville, MD 20850

Test for 11 genes linked to endometrial cancer

Gene List

BRCA1
BRCA2
EPCAM
MLH1
MSH2
MSH6
MUTYH
PMS2
POLD1
PTEN
TP53
 

Test Methodology and Limitations

DNA sequencing involves the extraction of genomic DNA from specimens collected in approved containers and provided the specimen meets required sample minimum quantity (e.g. volume, weight, etc). This is followed by quantification and qualification to ensure the adequacy of amount and purity for sequencing. Subsequently, whole exome sequencing is conducted on an IlluminaTM short read sequencing (SRS) platform (e.g., NovaSeq X PlusTM) at Psomagen, Inc.’s laboratories (CLIA # 21D2062464, CAP # 8742212).

DNA sequence alignment, variant calling, and variant filtering are performed utilizing the Illumina DRAGENTM bioinformatics pipeline (version 4.2.4.) and various tool sets, which align reads to the human reference genome (GRCh38) and identify single nucleotide variants (SNVs) and small insertions/deletions (InDels). Variant annotations are performed using a pipeline available in Fabric Enterprise. Variant review and interpretation are conducted according to the standards and guidelines set forth by the American College of Medical Genetics and Genomics (Richards S, et al., Genet Med., 2015) by Fabric Clinical Labs (CLIA #45D2281059, CAP # 9619501). Only variants classified as pathogenic or likely pathogenic are reported. The following quality filters are applied to all variants: coverage <40x, allele balance outside 0.3-0.7. Variants in the following genes are reported: BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, TP53.

This test is designed to detect single nucleotide variants (SNVs) and small insertions/deletions (InDels). Next-Generation Sequencing (NGS) coverage may vary across the genome, potentially resulting in missed variants in regions with low coverage depth. Some genetic abnormalities may be undetectable with the current version of this test. While the DRAGEN bioinformatics pipeline demonstrates high accuracy for variant calling, there remains a possibility of false positive or false negative results due to variant interpretation which relies on current scientific knowledge and available databases. This may lead to the reclassification of reported variants as new information emerges from ongoing research and is updated in the ACMG guidelines. Furthermore, systematic chemical, computational, or human errors may contribute to false positives or false negatives of DNA variants. For any reported variants, confirmation by orthogonal technology and subsequent consultation with a genetic counselor or qualified healthcare provider can help to establish definitive risk. This result should be considered preliminary until such confirmation has been performed.

Clinical management for this individual should be based on personal and family history, along with other relevant information. If considered relevant to this individual’s clinical presentation and/or family history, targeted testing of appropriate family members of this individual for the reported variants may help to interpret these results. For assistance with the interpretation of these results, healthcare professionals may contact Psomagen directly at (301) 251-1007 or support@psomagen.com.

More Resources

  1. Lu KH, Schorge JO, Rodabaugh KJ, Daniels MS, Sun CC, Soliman PT, White KG, Luthra R, Gershenson DM, Broaddus RR. Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol. 2007 Nov 20;25(33):5158-64. PubMed PMID:17925543. [PubMed]

  2. Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006 Aug 1;66(15):7810-7. PubMed PMID:16885385. [PubMed]

  3. Hampel H, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, LaJeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, de la Chapelle A, Frankel W, Penzone P, Cohn DE, Copeland L, Eaton L, Fowler J, Lombardi J, Dunn P, Bell J, Reid G, Lewandowski G, Vaccarello L. Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. Cancer Res. 2007 Oct 1;67(19):9603. PubMed PMID:17909073. [PubMed]

  4. Leenen CH, van Lier MG, van Doorn HC, van Leerdam ME, Kooi SG, de Waard J, Hoedemaeker RF, van den Ouweland AM, Hulspas SM, Dubbink HJ, Kuipers EJ, Wagner A, Dinjens WN, Steyerberg EW. Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years. Gynecol Oncol. 2012 May;125(2):414-20. PubMed PMID:22306203. [PubMed]

  5. Kohlmann W, Gruber SB. Lynch Syndrome. GeneReviews PubMed PMID:20301390.

  6. Koornstra JJ, Mourits MJ, Sijmons RH, Leliveld AM, Hollema H, Kleibeuker JH. Management of extracolonic tumours in patients with Lynch syndrome. Lancet Oncol. 2009 Apr;10(4):400-8. PubMed PMID:19341971. [PubMed]

  7. Lu KH, Dinh M, Kohlmann W, Watson P, Green J, Syngal S, Bandipalliam P, Chen LM, Allen B, Conrad P, Terdiman J, Sun C, Daniels M, Burke T, Gershenson DM, Lynch H, Lynch P, Broaddus RR. Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome. Obstet Gynecol. 2005 Mar;105(3):569-74. PubMed PMID:15738026. [PubMed]

  8. Schmeler KM, Lu KH. Gynecologic cancers associated with Lynch syndrome/HNPCC. Clin Transl Oncol. 2008 Jun;10(6):313-7. PubMed PMID:18558577. [PubMed]

  9. Vasen HF, Hendriks Y, de Jong AE, van Puijenbroek M, Tops C, Bröcker-Vriends AH, Wijnen JT, Morreau H. Identification of HNPCC by molecular analysis of colorectal and endometrial tumors. Dis Markers. 2004;20(4-5):207-13. PubMed PMID:15528786. [PMC free article][PubMed]

  10. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004 Feb 18;96(4):261-8. PubMed PMID:14970275. [PMC free article][PubMed]

  11. Ryan P, Mulligan AM, Aronson M, Ferguson SE, Bapat B, Semotiuk K, Holter S, Kwon J, Kalloger SE, Gilks CB, Gallinger S, Pollett A, Clarke BA. Comparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation-positive patients with endometrial cancer encountered in the context of familial gastrointestinal cancer registries. Cancer. 2012 Feb 1;118(3):681-8. PubMed PMID:21721000. [PubMed]

  12. Tan YY, McGaughran J, Ferguson K, Walsh MD, Buchanan DD, Young JP, Webb PM, Obermair A, Spurdle AB. Improving identification of lynch syndrome patients: A comparison of research data with clinical records. Int J Cancer. 2012 Dec 6. PubMed PMID:23225370. [PubMed]

  13. Resnick KE, Hampel H, Fishel R, Cohn DE. Current and emerging trends in Lynch syndrome identification in women with endometrial cancer. Gynecol Oncol. 2009 Jul;114(1):128-34. PubMed PMID:19375789. [PMC free article][PubMed]

  14. Clarke BA, Cooper K. Identifying Lynch syndrome in patients with endometrial carcinoma: shortcomings of morphologic and clinical schemas. Adv Anat Pathol. 2012 Jul;19(4):231-8. PubMed PMID:22692286. [PubMed]

  15. Garg K, Leitao MM Jr, Kauff ND, Hansen J, Kosarin K, Shia J, Soslow RA. Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. Am J Surg Pathol. 2009 Jun;33(6):925-33. PubMed PMID:19238076. [PubMed]

  16. Kastrinos F, Steyerberg EW, Mercado R, Balmaña J, Holter S, Gallinger S, Siegmund KD, Church JM, Jenkins MA, Lindor NM, Thibodeau SN, Burbidge LA, Wenstrup RJ, Syngal S. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology. 2011 Jan;140(1):73-81. PubMed PMID:20727894. [PMC free article][PubMed]

  17. Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, Campbell H, Dunlop MG. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med. 2006 Jun 29;354(26):2751-63. PubMed PMID:16807412. [PubMed]

  18. Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber SB, Euhus D, Kinzler KW, Jass J, Gallinger S, Lindor NM, Casey G, Ellis N, Giardiello FM, Offit K, Parmigiani G. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006 Sep 27;296(12):1479-87. PubMed PMID:17003396. [PMC free article][PubMed]

  19. Mercado RC, Hampel H, Kastrinos F, Steyerberg E, Balmana J, Stoffel E, Cohn DE, Backes FJ, Hopper JL, Jenkins MA, Lindor NM, Casey G, Haile R, Madhavan S, de la Chapelle A, Syngal S. Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases. Genet Med. 2012 Jul;14(7):670-80. PubMed PMID:22402756. [PMC free article][PubMed]

  20. Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E, Look K, Walls KC, Fan MY, Mutch DG. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. Proc Natl Acad Sci U S A. 2003 May 13;100(10):5908-13. PubMed PMID:12732731. [PMC free article][PubMed]

  21. Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 2009 Jan;11(1):42-65. PubMed PMID:19125127. [PMC free article][PubMed]

Our Certifications

CLIA ID number: 21D2062464
CAP ID number: 8742212