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.
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:
Decreased in:
Negative for mutations analyzed
Real Time PCR, PCR with Allele Specific Primer Extension, Pyrosequencing, Chip array, Immunohistochemistry, FISH.
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.
10-13 days.
| 0238U | $584.9 |
| 81301 | $348.56 |
| 81457 | $0 |
| 81458 | $0 |
| 81463 | $0 |
| 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 |
| 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 |
| C45 | Mesothelioma |
| C45.0 | Mesothelioma of pleura |
| C45.1 | Mesothelioma of peritoneum |
| C45.2 | Mesothelioma of pericardium |
| C45.7 | Mesothelioma of other sites |
| C45.9 | Mesothelioma, unspecified |
| C53 | Malignant neoplasm of cervix uteri |
| C53.9 | Malignant neoplasm of cervix uteri, unspecified |
| C54 | Malignant neoplasm of corpus uteri |
| C54.1 | Malignant neoplasm of endometrium |
| C54.9 | Malignant neoplasm of corpus uteri, unspecified |
| C55 | Malignant neoplasm of uterus, part unspecified |
| C56 | Malignant neoplasm of ovary |
| C56.1 | Malignant neoplasm of right ovary |
| C56.2 | Malignant neoplasm of left ovary |
| C56.9 | Malignant neoplasm of unspecified ovary |
| C57 | Malignant neoplasm of other and unspecified female genital organs |
| C57.00 | Malignant neoplasm of unspecified fallopian tube |
| C57.01 | Malignant neoplasm of right fallopian tube |
| C57.02 | Malignant neoplasm of left fallopian tube |
| C57.4 | Malignant neoplasm of uterine adnexa, unspecified |
| C66 | Malignant neoplasm of ureter |
| C66.1 | Malignant neoplasm of right ureter |
| C66.2 | Malignant neoplasm of left ureter |
| C66.9 | Malignant neoplasm of unspecified ureter |
| C68 | Malignant neoplasm of other and unspecified urinary organs |
| C68.9 | Malignant neoplasm of urinary organ, unspecified |
| C79.6 | Secondary malignant neoplasm of ovary |
| C79.60 | Secondary malignant neoplasm of unspecified ovary |
| C79.61 | Secondary malignant neoplasm of right ovary |
| C79.62 | Secondary malignant neoplasm of left ovary |
| D12 | Benign neoplasm of colon, rectum, anus and anal canal |
| D27 | Benign neoplasm of ovary |
| R97 | Abnormal tumor markers |
| R97.0 | Elevated carcinoembryonic antigen [CEA] |
| Z08 | Encounter for follow-up examination after completed treatment for malignant neoplasm |
| Z09 | Encounter for follow-up examination after completed treatment for conditions other than malignant neoplasm |
| Z15.09 | Genetic susceptibility to other malignant neoplasm |
| Z51.0 | Encounter for antineoplastic radiation therapy |
| Z51.1 | Encounter for antineoplastic chemotherapy and immunotherapy |
| Z51.11 | Encounter for antineoplastic chemotherapy |
| Z51.12 | Encounter for antineoplastic immunotherapy |
| Z79 | Long term (current) drug therapy |
| Z79.89 | Other long term (current) drug therapy |
| Z79.899 | Other long term (current) drug therapy |
| Z80 | Family history of primary malignant neoplasm |
| Z80.0 | Family history of malignant neoplasm of digestive organs |
| Z80.2 | Family history of malignant neoplasm of other respiratory and intrathoracic organs |
| Z83.71 | Family history of colonic polyps |
| Z85 | Personal history of malignant neoplasm |
| Z85.0 | Personal history of malignant neoplasm of digestive organs |
| Z85.00 | Personal history of malignant neoplasm of unspecified digestive organ |
| Z85.038 | Personal history of other malignant neoplasm of large intestine |
| Z85.048 | Personal history of other malignant neoplasm of rectum, rectosigmoid junction, and anus |
| Z85.05 | Personal history of malignant neoplasm of liver |
| Z85.41 | Personal history of malignant neoplasm of cervix uteri |
| Z85.42 | Personal history of malignant neoplasm of other parts of uterus |
| Z85.43 | Personal history of malignant neoplasm of ovary |
| Z85.44 | Personal history of malignant neoplasm of other female genital organs |
| Z85.54 | Personal history of malignant neoplasm of ureter |
| Z85.9 | Personal history of malignant neoplasm, unspecified |
| Z86.004 | Personal history of in-situ neoplasm of other and unspecified digestive organs |
| Z86.010 | Personal history of colonic polyps |
| Z87.19 | Personal history of other diseases of the digestive system |
| 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 |
| C39.0 | Malignant neoplasm of upper respiratory tract, part unspecified |
| C39.9 | Malignant neoplasm of lower respiratory tract, part unspecified |
| C45.0 | Mesothelioma of pleura |
| C45.1 | Mesothelioma of peritoneum |
| C45.2 | Mesothelioma of pericardium |
| C45.7 | Mesothelioma of other sites |
| C45.9 | Mesothelioma, unspecified |
| C53.0 | Malignant neoplasm of endocervix |
| C53.1 | Malignant neoplasm of exocervix |
| C53.8 | Malignant neoplasm of overlapping sites of cervix uteri |
| C53.9 | Malignant neoplasm of cervix uteri, unspecified |
| C54.0 | Malignant neoplasm of isthmus uteri |
| C54.1 | Malignant neoplasm of endometrium |
| C54.2 | Malignant neoplasm of myometrium |
| C54.3 | Malignant neoplasm of fundus uteri |
| C54.8 | Malignant neoplasm of overlapping sites of corpus uteri |
| C54.9 | Malignant neoplasm of corpus uteri, unspecified |
| C56.1 | Malignant neoplasm of right ovary |
| C56.2 | Malignant neoplasm of left ovary |
| C56.9 | Malignant neoplasm of unspecified ovary |
| C57.0 | Malignant neoplasm of fallopian tube |
| C57.00 | Malignant neoplasm of unspecified fallopian tube |
| C57.01 | Malignant neoplasm of right fallopian tube |
| C57.02 | Malignant neoplasm of left fallopian tube |
| C57.1 | Malignant neoplasm of broad ligament |
| C57.10 | Malignant neoplasm of unspecified broad ligament |
| C57.11 | Malignant neoplasm of right broad ligament |
| C57.12 | Malignant neoplasm of left broad ligament |
| C57.2 | Malignant neoplasm of round ligament |
| C57.20 | Malignant neoplasm of unspecified round ligament |
| C57.21 | Malignant neoplasm of right round ligament |
| C57.22 | Malignant neoplasm of left round ligament |
| C57.3 | Malignant neoplasm of parametrium |
| C57.4 | Malignant neoplasm of uterine adnexa, unspecified |
| C57.7 | Malignant neoplasm of other specified female genital organs |
| C57.8 | Malignant neoplasm of overlapping sites of female genital organs |
| C57.9 | Malignant neoplasm of female genital organ, unspecified |
| C66.1 | Malignant neoplasm of right ureter |
| C66.2 | Malignant neoplasm of left ureter |
| C66.9 | Malignant neoplasm of unspecified ureter |
| C67.6 | Malignant neoplasm of ureteric orifice |
| C68.0 | Malignant neoplasm of urethra |
| C68.1 | Malignant neoplasm of paraurethral glands |
| C68.8 | Malignant neoplasm of overlapping sites of urinary organs |
| C68.9 | Malignant neoplasm of urinary organ, unspecified |
| C79.6 | Secondary malignant neoplasm of ovary |
| C79.60 | Secondary malignant neoplasm of unspecified ovary |
| C79.61 | Secondary malignant neoplasm of right ovary |
| C79.62 | Secondary malignant neoplasm of left ovary |
| C7A.022 | Malignant carcinoid tumor of the ascending colon |
| C7A.023 | Malignant carcinoid tumor of the transverse colon |
| C7A.024 | Malignant carcinoid tumor of the descending colon |
| C7A.025 | Malignant carcinoid tumor of the sigmoid colon |
| D01.0 | Carcinoma in situ of colon |
| D12.0 | Benign neoplasm of cecum |
| D12.1 | Benign neoplasm of appendix |
| D12.2 | Benign neoplasm of ascending colon |
| D12.3 | Benign neoplasm of transverse colon |
| D12.4 | Benign neoplasm of descending colon |
| D12.5 | Benign neoplasm of sigmoid colon |
| D12.6 | Benign neoplasm of colon, unspecified |
| D12.7 | Benign neoplasm of rectosigmoid junction |
| D12.8 | Benign neoplasm of rectum |
| D12.9 | Benign neoplasm of anus and anal canal |
| D27.0 | Benign neoplasm of right ovary |
| D27.1 | Benign neoplasm of left ovary |
| D27.9 | Benign neoplasm of unspecified ovary |
| D30.2 | Benign neoplasm of ureter |
| D30.20 | Benign neoplasm of unspecified ureter |
| D30.21 | Benign neoplasm of right ureter |
| D30.22 | Benign neoplasm of left ureter |
| D37.4 | Neoplasm of uncertain behavior of colon |
| D39.1 | Neoplasm of uncertain behavior of ovary |
| D39.10 | Neoplasm of uncertain behavior of unspecified ovary |
| D39.11 | Neoplasm of uncertain behavior of right ovary |
| D39.12 | Neoplasm of uncertain behavior of left ovary |
| D3A.022 | Benign carcinoid tumor of the ascending colon |
| D3A.023 | Benign carcinoid tumor of the transverse colon |
| D3A.024 | Benign carcinoid tumor of the descending colon |
| D3A.025 | Benign carcinoid tumor of the sigmoid colon |
| D41.2 | Neoplasm of uncertain behavior of ureter |
| D41.20 | Neoplasm of uncertain behavior of unspecified ureter |
| D41.21 | Neoplasm of uncertain behavior of right ureter |
| D41.22 | Neoplasm of uncertain behavior of left ureter |
| D61.810 | Antineoplastic chemotherapy induced pancytopenia |
| D64.81 | Anemia due to antineoplastic chemotherapy |
| D70.1 | Agranulocytosis secondary to cancer chemotherapy |
| K63.5 | Polyp of colon |
| P04.11 | Newborn affected by maternal antineoplastic chemotherapy |
| R97.0 | Elevated carcinoembryonic antigen [CEA] |
| T80.810 | Extravasation of vesicant antineoplastic chemotherapy |
| T80.810A | Extravasation of vesicant antineoplastic chemotherapy, initial encounter |
| T80.810D | Extravasation of vesicant antineoplastic chemotherapy, subsequent encounter |
| T80.810S | Extravasation of vesicant antineoplastic chemotherapy, sequela |
| Z12.11 | Encounter for screening for malignant neoplasm of colon |
| Z12.73 | Encounter for screening for malignant neoplasm of ovary |
| Z15.02 | Genetic susceptibility to malignant neoplasm of ovary |
| Z51.1 | Encounter for antineoplastic chemotherapy and immunotherapy |
| Z51.11 | Encounter for antineoplastic chemotherapy |
| Z79.1 | Long term (current) use of non-steroidal anti-inflammatories (NSAID) |
| Z79.52 | Long term (current) use of systemic steroids |
| Z79.8 | Other long term (current) drug therapy |
| Z79.89 | Other long term (current) drug therapy |
| Z79.891 | Long term (current) use of opiate analgesic |
| Z79.899 | Other long term (current) drug therapy |
| Z80.1 | Family history of malignant neoplasm of trachea, bronchus and lung |
| Z80.2 | Family history of malignant neoplasm of other respiratory and intrathoracic organs |
| Z80.9 | Family history of malignant neoplasm, unspecified |
| Z83.71 | Family history of colonic polyps |
| Z85.0 | Personal history of malignant neoplasm of digestive organs |
| Z85.00 | Personal history of malignant neoplasm of unspecified digestive organ |
| Z85.01 | Personal history of malignant neoplasm of esophagus |
| Z85.02 | Personal history of malignant neoplasm of stomach |
| Z85.020 | Personal history of malignant carcinoid tumor of stomach |
| Z85.028 | Personal history of other malignant neoplasm of stomach |
| Z85.03 | Personal history of malignant neoplasm of large intestine |
| Z85.030 | Personal history of malignant carcinoid tumor of large intestine |
| Z85.038 | Personal history of other malignant neoplasm of large intestine |
| Z85.04 | Personal history of malignant neoplasm of rectum, rectosigmoid junction, and anus |
| Z85.040 | Personal history of malignant carcinoid tumor of rectum |
| Z85.048 | Personal history of other malignant neoplasm of rectum, rectosigmoid junction, and anus |
| Z85.05 | Personal history of malignant neoplasm of liver |
| Z85.06 | Personal history of malignant neoplasm of small intestine |
| Z85.060 | Personal history of malignant carcinoid tumor of small intestine |
| Z85.068 | Personal history of other malignant neoplasm of small intestine |
| Z85.07 | Personal history of malignant neoplasm of pancreas |
| Z85.09 | Personal history of malignant neoplasm of other digestive organs |
| Z85.1 | Personal history of malignant neoplasm of trachea, bronchus and lung |
| Z85.11 | Personal history of malignant neoplasm of bronchus and lung |
| Z85.110 | Personal history of malignant carcinoid tumor of bronchus and lung |
| Z85.118 | Personal history of other malignant neoplasm of bronchus and lung |
| Z85.12 | Personal history of malignant neoplasm of trachea |
| Z85.2 | Personal history of malignant neoplasm of other respiratory and intrathoracic organs |
| Z85.20 | Personal history of malignant neoplasm of unspecified respiratory organ |
| Z85.21 | Personal history of malignant neoplasm of larynx |
| Z85.22 | Personal history of malignant neoplasm of nasal cavities, middle ear, and accessory sinuses |
| Z85.23 | Personal history of malignant neoplasm of thymus |
| Z85.230 | Personal history of malignant carcinoid tumor of thymus |
| Z85.238 | Personal history of other malignant neoplasm of thymus |
| Z85.29 | Personal history of malignant neoplasm of other respiratory and intrathoracic organs |
| Z85.3 | Personal history of malignant neoplasm of breast |
| Z85.4 | Personal history of malignant neoplasm of genital organs |
| Z85.40 | Personal history of malignant neoplasm of unspecified female genital organ |
| Z85.41 | Personal history of malignant neoplasm of cervix uteri |
| Z85.42 | Personal history of malignant neoplasm of other parts of uterus |
| Z85.43 | Personal history of malignant neoplasm of ovary |
| Z85.44 | Personal history of malignant neoplasm of other female genital organs |
| Z85.45 | Personal history of malignant neoplasm of unspecified male genital organ |
| Z85.46 | Personal history of malignant neoplasm of prostate |
| Z85.47 | Personal history of malignant neoplasm of testis |
| Z85.48 | Personal history of malignant neoplasm of epididymis |
| Z85.49 | Personal history of malignant neoplasm of other male genital organs |
| Z85.5 | Personal history of malignant neoplasm of urinary tract |
| Z85.50 | Personal history of malignant neoplasm of unspecified urinary tract organ |
| Z85.51 | Personal history of malignant neoplasm of bladder |
| Z85.52 | Personal history of malignant neoplasm of kidney |
| Z85.520 | Personal history of malignant carcinoid tumor of kidney |
| Z85.528 | Personal history of other malignant neoplasm of kidney |
| Z85.53 | Personal history of malignant neoplasm of renal pelvis |
| Z85.54 | Personal history of malignant neoplasm of ureter |
| Z85.59 | Personal history of malignant neoplasm of other urinary tract organ |
| Z85.6 | Personal history of leukemia |
| Z85.7 | Personal history of other malignant neoplasms of lymphoid, hematopoietic and related tissues |
| Z85.71 | Personal history of Hodgkin lymphoma |
| Z85.72 | Personal history of non-Hodgkin lymphomas |
| Z85.79 | Personal history of other malignant neoplasms of lymphoid, hematopoietic and related tissues |
| Z85.8 | Personal history of malignant neoplasms of other organs and systems |
| Z85.81 | Personal history of malignant neoplasm of lip, oral cavity, and pharynx |
| Z85.810 | Personal history of malignant neoplasm of tongue |
| Z85.818 | Personal history of malignant neoplasm of other sites of lip, oral cavity, and pharynx |
| Z85.819 | Personal history of malignant neoplasm of unspecified site of lip, oral cavity, and pharynx |
| Z85.82 | Personal history of malignant neoplasm of skin |
| Z85.820 | Personal history of malignant melanoma of skin |
| Z85.821 | Personal history of Merkel cell carcinoma |
| Z85.828 | Personal history of other malignant neoplasm of skin |
| Z85.83 | Personal history of malignant neoplasm of bone and soft tissue |
| Z85.830 | Personal history of malignant neoplasm of bone |
| Z85.831 | Personal history of malignant neoplasm of soft tissue |
| Z85.84 | Personal history of malignant neoplasm of eye and nervous tissue |
| Z85.840 | Personal history of malignant neoplasm of eye |
| Z85.841 | Personal history of malignant neoplasm of brain |
| Z85.848 | Personal history of malignant neoplasm of other parts of nervous tissue |
| Z85.85 | Personal history of malignant neoplasm of endocrine glands |
| Z85.850 | Personal history of malignant neoplasm of thyroid |
| Z85.858 | Personal history of malignant neoplasm of other endocrine glands |
| Z85.89 | Personal history of malignant neoplasm of other organs and systems |
| Z85.9 | Personal history of malignant neoplasm, unspecified |
| Z86.010 | Personal history of colonic polyps |
| Z92.21 | Personal history of antineoplastic chemotherapy |