Factor v leiden mutation (r506q) is the most common cause of apc resistance. An abnormality that refers to mutation of factor v leiden, which is a variant of human factor v. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage.
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ICD-10-CM Code for Encounter for blood typing Z01. 83.
Hereditary deficiency of other clotting factors The 2022 edition of ICD-10-CM D68. 2 became effective on October 1, 2021. This is the American ICD-10-CM version of D68.
Group 1CodeDescription81241F5 (COAGULATION FACTOR V) (EG, HEREDITARY HYPERCOAGULABILITY) GENE ANALYSIS, LEIDEN VARIANT81291MTHFR (5,10-METHYLENETETRAHYDROFOLATE REDUCTASE) (EG, HEREDITARY HYPERCOAGULABILITY) GENE ANALYSIS, COMMON VARIANTS (EG, 677T, 1298C)1 more row
A screening colonoscopy should be reported with the following International Classification of Diseases, 10th edition (ICD-10) codes: Z12. 11: Encounter for screening for malignant neoplasm of the colon.
Code Z13. 89, encounter for screening for other disorder, is the ICD-10 code for depression screening.
For example, Z12. 31 (Encounter for screening mammogram for malignant neoplasm of breast) is the correct code to use when you are ordering a routine mammogram for a patient.
The type and screen are the primary pre-transfusion tests performed. Testing includes the determination of patient's ABO group, RhD type, and a screen for the detection of atypical antibodies. Additional testing for red cell antibody identification is performed when atypical antibodies are detected.
ICD-10-CM Code for Encounter for preprocedural laboratory examination Z01. 812.
2022 ICD-10-CM Diagnosis Code Z01. 812: Encounter for preprocedural laboratory examination.
This test detects the factor V R506Q (Leiden) mutation and will help identify those individuals who are at increased risk of thrombosis; however, increased risk of thrombosis can be caused by a variety of genetic and nongenetic factors not screened for by this assay.
Heterozygous carriers of this mutation have a four- to eightfold increased risk of thrombosis. Individuals homozygous for the mutation (ie, they have a copy of the mutation on each chromosome) carry an 80- to 100-fold risk of thrombosis.
The mutation is characterized by a guanine to adenine substitution at nucleotide 1691 in exon 10 of the factor V gene that replaces an arginine at codon 506 with a glutamine. It is designated as FV R506Q (Leiden), and confers resistance to inactivation by activated protein C.
Genetic counselors are available for health care providers to discuss results, and for information on how to order additional testing, if desired, at 800-345-4363.
All offspring of a factor V Leiden homozygote will inherit at least a single copy of the mutation. Genetic counseling is recommended for these patients. The risk of venous thrombosis increases exponentially in patients with more than one risk factor, including age, surgery, oral contraceptive use, pregnancy, elevated homocysteine levels, ...
Aetna considers genetic testing of SCA1 (ATXN1 gene), SCA2 (ATXN2 gene), SCA3 (ATXN3 gene), SCA6 (CACNA1A gene), SCA7 (ATXN7) and DRPLA (ATN1 gene) medically necessary to aid in the diagnosis of SCA when the following criteria are met:
Familial nephrotic syndrome (NPHS1, NPHS2): Aetna considers genetic testing for an NPHS1 mutation medically necessary for children with congenital nephrotic syndrome (nephrotic syndrome appearing within the first month of life) who are of Finnish descent or who have a family history of congenital nephrotic syndrome.
STK11 (LKB1) gene testing may be considered for individuals with a suspected or known clinical diagnosis of Peutz-Jeghers syndrome, or a known family history of a STK11 (LKB1) mutation. Testing may be considered for individuals whose medical and/or family history is consistent with any of the following:
Aetna considers genetic testing for thoracic aortic aneurysms and dissections (TAAD) medically necessary for asymptomatic persons with an affected first-degree blood relative (i.e,. parent , full-sibling, child) with a known deleterious or suspected deleterious mutation in a gene known to cause familial TAAD. (Testing strategy: Test for known familial mutation.) Genetic testing for thoracic aortic aneurysms and dissections (TAAD) is considered experimental and investigational for any other indication, including but not limited to persons clinically diagnosed with TAAD, with a positive family history of the disorder, and for whom a genetic syndrome has been excluded.
In a review on “Personalized medicine in diabetes mellitus”, Kleinberger and Pollin (2015) stated that “… there are some 40 genes implicated in the complex etiology of type 1 diabetes, with currently unknown practical clinical implications … MODY3 is the most common form of MODY, comprising 52 % of cases in the well-characterized United Kingdom, though prevalence varies by ethnicity and geographic region. It is caused by a mutation in HNF1A, which encodes the transcription factor hepatic nuclear factor 1-α (HNF1-α), which promotes transcription of multiple genes related to glucose metabolism, insulin secretion, and insulin production. HNF1-α has 55 % amino acid similarity with hepatic nuclear factor 4-α (HNF4-α), which is mutated in MODY1. MODY1 makes up about 10 % of MODY cases in the United Kingdom … The most well-established treatment changes that can result from a genetic diagnosis are high-dose sulfonylureas rather than insulin for KCNJ11/ABCC8-related diabetes (usually neonatal), low-dose sulfonylureas rather than insulin (especially at early stages) for MODY1 (HNF4A) and MODY3 (HNF1A), and no treatment for MODY2 (GCK)”.
Based upon guidelines from the National Comprehensive Cancer Network, Aetna considers PTEN gene testing medically necessary in individuals with a suspected or known clinical diagnosis of Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (BRR), or a known family history of a PTEN mutation who meet any of the following criteria:
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD solution A or B (yellow-top), or lithium heparin (green-top)