Test Catalog

Test ID: KVAR1    
Known Variant Analysis-1 Variant, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnostic or predictive testing for specific conditions when a DNA sequence variant of interest has been previously identified in a family member, and follow-up testing for this specific variant in other family members is desired

 

Carrier screening for individuals at risk for having a DNA sequence variant that was previously identified in a family member

 

Segregation analysis for a single familial DNA sequence variant

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Documentation of the specific familial variant is required and must be provided with the specimen in order to perform this test.

 

This test should be used for targeted (site-specific) testing for a single sequence variant identified in any of the genes listed: ABCC9, ABCG5, ABCG8, ACTA2, ACTC1, ACTN2, ACVRL1 (ALK1), ADA (ADA1), ADA2 (CERC1), ADAM17, ADAMTS13, AICDA, AK2, AKAP9, ANK2, ANKRD1, AP3B1, APOB, ATM, BLNK, BRAF, BTK, C3, CACNA1C, CACNA2D1, CACNB2, CARD11, CARD14, CARD15, CAV3, CBL, CBS, CD19, CD247 (CD3Z), CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46 (MCP), CD79A, CD79B (B29), CD81, CD8A, CEBPE, CFB, CFD, CFHR1, CFHR3, CFHR5, CFI, CHD7, CIITA, COL3A1, COL5A1, COL5A2, CORO1A, CR2 (CD21), CRYAB, CSF2RA, CSF3R, CSRP3, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1C (ARTEMIS),DES, DGKE, DKC1, DOCK8, DSC2, DSG2, DSP, DTNA, ELANE (ELA2), ENG, FBN1, FBN2, FERMT3, FLNA, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GATA2, GDF2 (BMP9), GFI1, GLA, GPD1L, HAX1, HRAS, ICOS, IGHM, IGLL1 (LAMDA5), IKBKG (NEMO), IKZF1 (IKAROS), IL10, IL10RA, IL10RB, IL1RN, IL21, IL21R, IL2RA (CD25), IL2RG, IL36RN, IL7R, ISG15, ITK, JAK3, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LAMTOR2 (MAPBPIP),LCK, LDB3, LDLR, LDLRAP1, LIG4, LMNA, LPIN2, LRBA, LRRC8A, MAGT1, MALT1, MAP2K2, MEFV, MFAP5, MPO, MS4A1 (CD20), MTHFD1, MVK, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NCF2, NCF4, NEXN, NFKB2, NFKBIA (IKBA), NHEJ1, NHP2, NLRC4, NLRP12, NLRP3 (C1AS1), NOD2 (CARD15), NOP10, NOTCH1, NRAS, ORAI1, PCSK9, PIK3CD, PIK3R1, PKP2, PLCG2, PLG, PLN, PMM2 (CDG1), PNP, PRKAG2, PRKCD, PRKDC, PRKG1, PSMB8, PSTPIP1 (CD2BP1), PTPN11, PTPRC (CD45), RAC2, RAF1, RAG1, RAG2, RASA1, RASGRP2, RBCK1 (HOIL1), RBM20, RBM8A, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNF168, RTEL1, RYR2, SBDS, SCN1B, SCN3B, SCN4B, SCN5A, SEMA3E, SGCD, SH2D1A, SH3BP2, SHOC2, SKI, SKIV2L, SLC2A10, SLC37A4, SLC46A1, SMAD3, SMAD4, SNTA1, SOS1, SPINK5, STAT1, STAT3, STAT5B, STIM1, STK4, STXBP2, TAP1, TAP2, TAPBP, TAZ ,TBX1 ,TCAP, TCF3 (E47), TERC, TERT, TGFB2, TGFB3, TGFBR1, TGFBR2, THBD, TINF2, TMEM43, TNFAIP3, TNFRSF13B (TACI), TNFRSF13C, TNFRSF1A , TNFRSF4 (OX40), TNFSF12 (TWEAK),TNNC1, TNNI3, TNNT2, TPM1, TRAC, TTC37, TTC7A, TTN, TTR, UNG, USB1 (C16ORF57), VCL, VPS13B (COH1), VPS45, WAS, WIPF1, WRAP53, XIAP (BIRC4), ZAP70.

 

This test may also be used for large deletion or duplication testing in any of the following genes: ABCC9, ABCG5, ABCG8, ACTA2, ACVRL1 (ALK), APOB, CBS, COL3A1, COL5A1, COL5A2, ENG, FBN1, FBN2, FLNA, GDF2 (BMP9), LDLR, LDLRAP1, MFAP5, MYH11, MYLK, NOTCH1, PCSK9, PRKG1, RASA1, SKI, SLC2A10, SMAD3, SMAD4,TGFB2,TGFB3,TGFBR1,and TGFBR2.

 

Note: If testing is needed for a gene not on this list, see 1 of the following: 

-PKLRG / Pyruvate Kinase Liver and Red Blood Cell (PKLR) Full Gene Sequencing and Large Deletion Detection testing for known familial large deletions in the PKLR gene

-PKLR single gene variant may be requested by ordering this test (KVAR1).

- UGTFG / UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing

-FMTT / Familial Mutation, Targeted Testing, Varies which includes targeted and site-specific and deletion or duplication testing for additional genes

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
MATCCMaternal Cell Contamination, BYesNo
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Followed by DNA Sequencing Analysis or qPCR

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Known Variant Analysis-1 Variant

Aliases Lists additional common names for a test, as an aid in searching

Aortic aneurysm
Aortic dilatation
Aortic dissection
Aortopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Arrhythmogenic right ventricular dysplasia (ARVD)
Arterial tortuosity
Arteriovenous Malformations (AVM)
Brugada syndrome
Cardiofaciocutaneous (CFC)
Cardiomyopathy
Costello Syndrome (CS)
Dilated Cardiomyopathy (DCM)
Endoglin
Familial Hypercholesterolemia (FH)
Familial Mutation
Familial Thoracic Aortic Aneurysm and Dissection (FTAAD)
Hereditary Hemorrhagic Telangiectasia (HHT)
Hypercholesterolemia
Hypertrophic Cardiomyopathy (HCM)
Known Variant
Known Mutation
Left ventricular non-compaction (LVNC)
LEOPARD Syndrome (LS)
Loeys-Dietz syndrome
Marfan syndrome (MFS)
Mitral valve prolapse
Noonan Syndrome (NS)
Osler-Rendu-Weber (ORW) Disease
Osler-Weber-Rendu (OWR) Disease
Shprintzen-Goldberg
Telangiectasia
Thoracic Aortic Aneurysm and Dissection (TAAD)
Vascular aneurysm
Multiple Lentigines syndrome
Activin A Receptor, Type II-Like I
Atypical Hemolytic Uremic Syndrome (aHUS)
Autoinflammatory bone disease
B-cell Deficiency
Inflammatory Bowel Disease
Severe Combined Immunodeficiency (SCID)
GATA2
Chronic Granulomatous Disease (CGD)
Congenital neutropenia
Cyclic neutropenia
Dyskeratosis congenita
Leukocyte adhesion deficiencies
Telomeropathies