Test ID: KVAR3    
Known Variant Analysis-3+ Variants, Varies

Diagnostic or predictive testing for specific conditions when 3 to 5 DNA sequence variants of interest have been previously identified in a family member, and follow-up testing for these specific variants in other family members is desired

Carrier screening for individuals at risk for having 3 to 5 DNA sequence variants that were previously identified in a family member

Segregation analysis for 3 to 5 familial DNA sequence variants

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 3 to 5 sequence variants identified in any of the genes listed: ABCC9, ABCG5, ABCG8, ACTA2, ACTC1, ACTN2, ACVRL1 (ALK1), ADA (ADA1), ADA2 (CERC1), ADAM17, ADAMTS13, ADAMTS2, AICDA, AK1, AK2, AKAP9, ALDOA, ANK1, ANK2, ANKRD1, ANKRD26, AP3B1, APOB, ATM, ATP7A, BLNK, BPGM, BRAF, BTK, C15ORF41, C3, CACNA1C, CACNA2D1, CACNB2, CARD11, CARD14, CARD15, CAV3, CBL, CBS, CD19, CD247 (CD3Z), CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46 (MCP), CD59, CD79A, CD79B (B29), CD81, CD8A, CDAN1, CEBPA, CEBPE, CFB, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, CHD7, CHST14, CIITA, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CORO1A, CR2 (CD21), CRYAB, CSF2RA, CSF3R, CSRP3, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYB5A, CYB5R3, CYBB, DCLRE1C (ARTEMIS), DDX41, DES, DGKE, DKC1, DOCK8, DSC2, DSG2, DSP, DTNA, EGLN1, ELANE (ELA2), ENG, EPAS1, EPB41, EPB42, EPOR, ETV6, F8, FBN1, FBN2, FERMT3, FLNA, FKBP14, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GATA1, GATA2, GCLC, GDF2 (BMP9), GFI1, GLA, GPD1L, GPI, GSR, GSS, GYPC, HAX1, HK1, HMOX1, HRAS, ICOS, IGHM, IGLL1 (LAMDA5), IKBKB, IKBKG (NEMO), IKZF1 (IKAROS), IL10, IL10RA, IL10RB, IL1RN, IL21, IL21R, IL2RA (CD25), IL2RG, IL36RN, IL7R, ISG15, ITK, ITGB2, JAK2, JAK3, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNN4, KCNQ1, KIF23, KLF1, KRAS, LAMA4, LAMP2, LAMTOR2 (MAPBPIP),LCK, LDB3, LDLR, LDLRAP1, LIG4, LMNA, LPIN2, LRBA, LRRC8A, MAGT1, MALT1, MAP2K1, MAP2K2, MEFV, MFAP5, MPL, 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, NT5C3A, ORAI1, PCSK9, PFKM, PGK1, PIEZO1, PIK3CD, PIK3R1, PKP2, PLCG2, PLG, PLN, PLOD1, PMM2 (CDG1), PNP, PRKAG2, PRKCD, PRKDC, PRKG1, PROC, PROS1, PSMB8, PSTPIP1 (CD2BP1), PTPN11, PTPRC (CD45), RAC2, RAF1, RAG1, RAG2, RASA1, RASGRP2, RBCK1 (HOIL1), RBM20, RBM8A, RFX5, RFXANK, RFXAP, RHAG, RHOH, RMRP, RNF168, RTEL1, RUNX1, RYR2, SBDS, SCN1B, SCN3B, SCN4B, SCN5A, SEC23B, SEMA3E, SERPINC1, SGCD, SH2B3, SH2D1A, SH3BP2, SHOC2, SKI, SKIV2L, SLC2A1, SLC2A10, SLC37A4, SLC39A13, SLC4A1, SLC46A1, SMAD3, SMAD4, SNTA1, SOS1, SPINK5, SPTA1, STAT1, STAT3, STAT5B, SPTB, SRP72, 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, TP53, TPI1, TPM1, TRAC, TTC37, TTC7A, TTN, TTR, UNG, USB1 (C16ORF57), VCL, VPS13B (COH1), VPS45, VWF, WAS, WIPF1, WRAP53, XIAP (BIRC4), ZAP70.

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 Varies testing for known familial large deletions in the PKLR gene.

-PKLR gene sequencing for 3 to 5 variants may be requested by ordering this test (KVAR3).

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

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

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, CULAF / Amniotic Fluid Culture for Genetic Testing will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, CULFB / Fibroblast Culture for Genetic Testing will be added and charged separately. For any prenatal specimen that is received, MATCC / Maternal Cell Contamination, Molecular Analysis, Varies studies will be added.

For skin biopsy or cultured fibroblast specimens, FIBR / Fibroblast Culture, Tissue and CRYOB / Cryopreservation for Biochemical Studies will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

• Informed Consent for Genetic Testing
• Known Variant Analysis Required Patient Information
• Blood Spot Collection Card-Spanish Instructions
• Blood Spot Collection Card-Chinese Instructions
• Genes Available for Known Variant Analysis Testing (KVAR1, KVAR2, KVAR3)
• Informed Consent for Genetic Testing (Spanish)
• Blood Spot Collection Instructions

Polymerase Chain Reaction (PCR) followed by DNA Sequencing Analysis