Diseases (20)
Diagnostic Testing (5)

Note: The sensitivity of microsatellite instability (MSI) testing for Lynch Syndrome is about 85-95%.

Note: Differential diagnosis of hereditary nonpolyposis type colon cancer (HNPCC)

Note: Differential diagnosis of hereditary nonpolyposis type colon cancer (HNPCC)

Note: Differential diagnosis of hereditary nonpolyposis type colon cancer (HNPCC)
Disease Management Testing (1)

Note: Useful as screen for Lynch Syndrome if endometrial carcinoma has been diagnosed.

Overview

Microsatellite instability is used as an aid in the diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) also know as Lynch syndrome. Microsatellites are also known as short tandem repeats found in human DNA as a regulatory and structural part of the human genome. These microsatellites are not longer than 2-6 base pairs in length found in 10-50 repeats. The regions of microsatellite instability are susceptible to mistakes during DNA replication that are typically repaired by mismatch repair proteins (MMR).

Mutation in MMR genes results in nonfunctional MMR proteins, which often results in accumulation of non-repaired, damaged mutated short tandem repeats leading to microsatellite instability (MSI). There are several MMR genes that are prone to mutations. The most common MMR are hMLH1, hMSH2, hPMS1, and hPMS2. Mutations on any of these genes or more than one gene can lead to MSI.

MSI is predominantly associated with polyposis and nonpolyposis colorectal cancer, especially with HNPCC. Hereditary nonpolyposis colorectal cancer (HNPCC) can be a component of Lynch syndrome. It is an autosomal dominant syndrome with early onset of colonic carcinoma and with increased risk for malignancy. Genetic testing for MMRs can confirm the diagnosis of HPNCC and can also identify presymptomatic individuals at risk among the patient's relatives. This test usually covers most common gene mutations (coding regions) in hMLH1, hMSH2, hPMS1, and hPMS2. Early screening can help in patients with family history of colorectal cancer.

Clinical Utility

  • In evaluation for hereditary nonpolyposis type colon cancer (HNPCC)
  • Screening for MSI or MMR gene mutation in patients with family history of colon cancer
  • Differential diagnosis of colon cancer type
  • Therapy and disease management
  • Evaluation of family members
  • Guiding preventative measures

Interpretation

Mutations of genes in hMLH1, hMSH2, hPMS1, and hPMS2 (one or more) are present in individuals with HNPCC >30-40% : MSI-H phenotype

Increased in:

  • Colorectal cancer, some
  • Endometrial cancer, some
  • Ovarian Cancer, some
  • Stomach Cancer, some

Decreased in:

  • Tumors associated with MSH6 mutations.

Reference Ranges

Negative for mutations analyzed
 

 

 

Methodology

Real Time PCR, PCR with Allele Specific Primer Extension, Pyrosequencing, Chip array, Immunohistochemistry, conventional sequencing, next generation sequencing (NGS). 

Specimen Collection

Tissue & Whole Blood EDTA (Lavender) or ACD (Yellow). 

Stability

  • Ambient: 3-5 days
  • Refrigerated: 5-7 days

Additional Testing

Carcinoembryonic Antigen (CEA), Chromosomal analysis, Occult blood, B-RAF mutation analysis, Microsatellite Instability/HNPCC by molecular method and by IHC, Septin 9 (SEPT9), K-RAS, EGFR Mutation Detection by molecular method, p53 by molecular method and by IHC, Ki67 by IHC, p63 by IHC.

Turnaround Time

1-2 weeks. 

CPT
0238U$584.9
81301$348.56
81457$896.87
81458$1046.35
81463$1345.31

ICD10
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Showing results for all states.
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ICD10 CODE AND DESCRIPTIONLCD CODENCD CODE
B20 - Human immunodeficiency virus [HIV] disease——
B97.7 - Papillomavirus as the cause of diseases classified elsewhere——
C16 - Malignant neoplasm of stomach——
C16.9 - Malignant neoplasm of stomach, unspecified——
C17 - Malignant neoplasm of small intestine——
C17.0 - Malignant neoplasm of duodenum——
C17.1 - Malignant neoplasm of jejunum——
C17.9 - Malignant neoplasm of small intestine, unspecified——
C18 - Malignant neoplasm of colon——
C18.0 - Malignant neoplasm of cecum——
C18.1 - Malignant neoplasm of appendix——
C18.2 - Malignant neoplasm of ascending colon——
C18.3 - Malignant neoplasm of hepatic flexure——
C18.4 - Malignant neoplasm of transverse colon——
C18.5 - Malignant neoplasm of splenic flexure——
C18.6 - Malignant neoplasm of descending colon——
C18.7 - Malignant neoplasm of sigmoid colon——
C18.8 - Malignant neoplasm of overlapping sites of colon——
C18.9 - Malignant neoplasm of colon, unspecified——
C19 - Malignant neoplasm of rectosigmoid junction——
C20 - Malignant neoplasm of rectum——
C21 - Malignant neoplasm of anus and anal canal——
C21.0 - Malignant neoplasm of anus, unspecified——
C21.1 - Malignant neoplasm of anal canal——
C21.2 - Malignant neoplasm of cloacogenic zone——
C21.8 - Malignant neoplasm of overlapping sites of rectum, anus and anal canal——
C26.9 - Malignant neoplasm of ill-defined sites within the digestive system——
C38 - Malignant neoplasm of heart, mediastinum and pleura——
C38.0 - Malignant neoplasm of heart——
C38.1 - Malignant neoplasm of anterior mediastinum——
C38.2 - Malignant neoplasm of posterior mediastinum——
C38.3 - Malignant neoplasm of mediastinum, part unspecified——
C38.4 - Malignant neoplasm of pleura——
C38.8 - Malignant neoplasm of overlapping sites of heart, mediastinum and pleura——
C39 - Malignant neoplasm of other and ill-defined sites in the respiratory system and intrathoracic organs——
C39.0 - Malignant neoplasm of upper respiratory tract, part unspecified——
C43 - Malignant melanoma of skin——
C43.0 - Malignant melanoma of lip——
C43.1 - Malignant melanoma of eyelid, including canthus——
C43.2 - Malignant melanoma of ear and external auricular canal——
C43.3 - Malignant melanoma of other and unspecified parts of face——
C43.4 - Malignant melanoma of scalp and neck——
C43.5 - Malignant melanoma of trunk——
C43.6 - Malignant melanoma of upper limb, including shoulder——
C43.7 - Malignant melanoma of lower limb, including hip——
C43.8 - Malignant melanoma of overlapping sites of skin——
C43.9 - Malignant melanoma of skin, unspecified——
C44 - Other and unspecified malignant neoplasm of skin——
C45 - Mesothelioma——
C45.0 - Mesothelioma of pleura——

Additional ICD10
  • AK - Alaska
  • AL - Alabama
  • AR - Arkansas
  • AS - American Samoa
  • AZ - Arizona
  • CA - California - Entire State
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  • CT - Connecticut
  • DC - District of Columbia
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  • WA - Washington
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  • WV - West Virginia
  • WY - Wyoming
  • CNMI - Northern Mariana Islands
  • EM - Missouri - Northeastern & Southern
  • WM - Missouri - Northwestern
  • DN - New York - Downstate
  • QN - New York - Queens
  • UN - New York - Upstate
  • NF - California - Northern
  • SF - California - Southern
Showing results for all states.
Filter:
ICD10 CODE AND DESCRIPTIONLCD CODENCD CODE
C16.0 - Malignant neoplasm of cardia——
C16.1 - Malignant neoplasm of fundus of stomach——
C16.2 - Malignant neoplasm of body of stomach——
C16.3 - Malignant neoplasm of pyloric antrum——
C16.4 - Malignant neoplasm of pylorus——
C16.5 - Malignant neoplasm of lesser curvature of stomach, unspecified——
C16.6 - Malignant neoplasm of greater curvature of stomach, unspecified——
C16.8 - Malignant neoplasm of overlapping sites of stomach——
C16.9 - Malignant neoplasm of stomach, unspecified——
C17.0 - Malignant neoplasm of duodenum——
C17.1 - Malignant neoplasm of jejunum——
C17.2 - Malignant neoplasm of ileum——
C17.3 - Meckel's diverticulum, malignant——
C17.8 - Malignant neoplasm of overlapping sites of small intestine——
C17.9 - Malignant neoplasm of small intestine, unspecified——
C18.0 - Malignant neoplasm of cecum——
C18.1 - Malignant neoplasm of appendix——
C18.2 - Malignant neoplasm of ascending colon——
C18.3 - Malignant neoplasm of hepatic flexure——
C18.4 - Malignant neoplasm of transverse colon——
C18.5 - Malignant neoplasm of splenic flexure——
C18.6 - Malignant neoplasm of descending colon——
C18.7 - Malignant neoplasm of sigmoid colon——
C18.8 - Malignant neoplasm of overlapping sites of colon——
C18.9 - Malignant neoplasm of colon, unspecified——
C21.0 - Malignant neoplasm of anus, unspecified——
C21.1 - Malignant neoplasm of anal canal——
C21.2 - Malignant neoplasm of cloacogenic zone——
C21.8 - Malignant neoplasm of overlapping sites of rectum, anus and anal canal——
C38.0 - Malignant neoplasm of heart——
C38.1 - Malignant neoplasm of anterior mediastinum——
C38.2 - Malignant neoplasm of posterior mediastinum——
C38.3 - Malignant neoplasm of mediastinum, part unspecified——
C38.4 - Malignant neoplasm of pleura——
C38.8 - Malignant neoplasm of overlapping sites of heart, mediastinum and pleura——
C39.0 - Malignant neoplasm of upper respiratory tract, part unspecified——
C39.9 - Malignant neoplasm of lower respiratory tract, part unspecified——
C43.0 - Malignant melanoma of lip——
C43.1 - Malignant melanoma of eyelid, including canthus——
C43.10 - Malignant melanoma of unspecified eyelid, including canthus——
C43.11 - Malignant melanoma of right eyelid, including canthus——
C43.111 - Malignant melanoma of right upper eyelid, including canthus——
C43.112 - Malignant melanoma of right lower eyelid, including canthus——
C43.12 - Malignant melanoma of left eyelid, including canthus——
C43.121 - Malignant melanoma of left upper eyelid, including canthus——
C43.122 - Malignant melanoma of left lower eyelid, including canthus——
C43.2 - Malignant melanoma of ear and external auricular canal——
C43.20 - Malignant melanoma of unspecified ear and external auricular canal——
C43.21 - Malignant melanoma of right ear and external auricular canal——
C43.22 - Malignant melanoma of left ear and external auricular canal——

References