Comprehensive Endocrine Cancer Panel
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 16211 | Genes x (42) | 81479 | 81167(x1), 81201(x1), 81203(x1), 81236(x1), 81292(x1), 81294(x1), 81295(x1), 81297(x1), 81298(x1), 81300(x1), 81307(x1), 81317(x1), 81319(x1), 81321(x1), 81323(x1), 81403(x3), 81404(x6), 81405(x7), 81406(x7), 81407(x1), 81408(x1), 81479(x44) | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
About the Comprehensive Endocrine Cancer Panel
Hereditary endocrine tumor syndromes can cause the overproduction of hormones and predispose individuals to the development of endocrine neoplasms. Syndromes primarily affecting endocrine and neuroendocrine tissues include multiple endocrine neoplasia types 1, 2, and 4 (caused by pathogenic variants in the MEN1, RET, and CDKN1B genes), familial isolated pituitary adenoma (AIP), Carney complex (PRKAR1A), and hyperparathyroidism-jaw tumor syndrome (CDC73). Other syndromes affecting endocrine and neuroendocrine tissue in their clinical spectrum include Von Hippel-Lindau disease (VHL), familial adenomatous polyposis (APC), Li-Fraumeni syndrome (TP53), PTEN hamartoma tumor syndrome (PTEN), neurofibromatosis 1 (NF1), and DICER1 syndrome (DICER1).1-11 Of note, RET variants can also be associated with Hirschsprung disease. These conditions follow primarily autosomal dominant inheritance patterns, and both sequence variants and copy number variants can be causative. This comprehensive panel is designed to identify potentially causative germline variants for these endocrine neoplasms in many sites, including thyroid, parathyroid, and pancreas, and across multiple tumor types, including paraganglioma/pheochromocytoma (PGL/PCC), adrenocortical carcinoma (ACC), and neuroblastoma. The diagnostic yield of this panel will vary based on the clinical phenotype and family history of the patient.
Genetics
All genetic tests have limitations. Please refer to our Test Methods page for limitations relevant to this methodology.
TSC1: This test does not include analysis of TSC1 (NM_000368.4) non-coding exons 1 and 2. To our knowledge, no sequence variants have been reported in association with TSC1-related disease within this interval. However, a limited number of copy number variants (CNVs) have been reported in association with tuberous sclerosis complex (TSC) within this interval (e.g. van den Ouweland et al. 2011. PubMed ID: 20877415; Overwater et al. 2016. PubMed ID: 27406250). If TSC is strongly suspected, TSC1 multiplex ligation-dependent probe amplification (MLPA) may be ordered using test code 2055.
SDHA: Of note, Next Generation Sequencing analysis of the SDHA gene is technically challenging due to the presence of segmental duplications and paralogy. Therefore, analysis of CNVs in this gene is not included in this test.
PHOX2B: The PHOX2B exon 3 polyalanine region is not covered.
PMS2: DNA analysis of the PMS2 gene is complicated due to the presence of several pseudogenes. One particular pseudogene, PMS2CL, has high sequence similarity to PMS2 exons 11 to 15 (Blount et al. 2018. PubMed ID: 29286535). Next-generation sequencing (NGS) based copy number variant (CNV) analysis can detect deletions and duplications involving exons 1 to 10 of PMS2 but has less sensitivity for exons 11 through 15. Multiplex ligation-dependent probe amplification (MLPA) can detect deletions and duplications involving PMS2 exons 1 to 15. Of note, PMS2 MLPA is not typically included in this test but can be ordered separately using test code 6062, if desired.
Enhanced Testing
APC: This testing includes APC promoter 1B.
MSH2: This testing includes the inversion of exons 1 to 7 in MSH2 (Boland Inversion) and the c.942+3A>T polyalanine repeat variant.
NF1 and PMS2: Deletion and duplication testing for NF1 and PMS2 is performed using NGS, but CNVs detected in these genes are usually confirmed via multiplex ligation- dependent probe amplification (MLPA).
PTEN: This testing includes coverage of the PTEN minimal promoter region (positions -1239 to -765 relative to the start codon).
VHL: This testing includes the VHL E1’ cryptic exon.
Testing Strategy
This panel provides 100% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing.
Indications for Test
- Individuals with relevant features who have a clinical or suspected diagnosis of hereditary endocrine tumor syndromes
- Individuals with a family history of endocrine tumors or cancers
- Individuals seeking comprehensive genetic screening for hereditary endocrine and neuroendocrine tumors
- Individuals with relevant features who have a clinical or suspected diagnosis of hereditary endocrine tumor syndromes
- Individuals with a family history of endocrine tumors or cancers
- Individuals seeking comprehensive genetic screening for hereditary endocrine and neuroendocrine tumors
Genes
| Official Gene Symbol | OMIM ID |
|---|---|
| AIP | 605555 |
| ALK | 105590 |
| APC | 611731 |
| BRCA2 | 600185 |
| CDC73 | 607393 |
| CDKN1B | 600778 |
| CDKN1C | 600856 |
| CHEK2 | 604373 |
| DICER1 | 606241 |
| EPCAM | 185535 |
| EZH2 | 601573 |
| FH | 136850 |
| HRAS | 190020 |
| KRAS | 190070 |
| MAX | 154950 |
| MEN1 | 613733 |
| MLH1 | 120436 |
| MSH2 | 609309 |
| MSH6 | 600678 |
| NF1 | 613113 |
| NRAS | 164790 |
| PALB2 | 610355 |
| PHOX2B | 603851 |
| PMS2 | 600259 |
| PRKAR1A | 188830 |
| PTEN | 601728 |
| PTPN11 | 176876 |
| RAF1 | 164760 |
| RET | 164761 |
| SDHA | 600857 |
| SDHAF2 | 613019 |
| SDHB | 185470 |
| SDHC | 602413 |
| SDHD | 602690 |
| SMARCA4 | 603254 |
| SOS1 | 182530 |
| TMEM127 | 613403 |
| TP53 | 191170 |
| TSC1 | 605284 |
| TSC2 | 191092 |
| VHL | 608537 |
| WRN | 604611 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
Related Tests
| Name |
|---|
| PGxome® |
| Comprehensive Hereditary Cancer Panel |
| Hereditary Paraganglioma and Pheochromocytoma Panel |
| Neuroblastoma Panel |
Citations
- 1. PDQ Cancer Genetics Editorial Board. 2002. [Updated 2024]. PubMed ID: 26389271
- 2. Guisti et al. 2005. [Updated 2022]. PubMed ID: 20301710
- 3. Eng et al. 1999. [Updated 2023]. PubMed ID: 20301434
- 4. Korbonits et al. 2012. [Updated 2025]. PubMed ID: 22720333
- 5. Stratakis et al. 2003. [Updated 2023]. PubMed ID: 20301463
- 6. Van Leeuwaarde et al. 2000. [Updated 2024]. PubMed ID: 20301636
- 7. Else et al. 2008. [Updated 2023]. PubMed ID: 20301715
- 8. Yehia et al. 2001. [Updated 2021]. PubMed ID: 20301661
- 9. Schultz et al. 2014. [Updated 2020]. PubMed ID: 24761742
- 10. Skefos et al. 2008. [Updated 2023]. PubMed ID: 20301744
- 11. Friedman et al. 1998. [Updated 2022]. PubMed ID: 20301288
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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