KVAR1 - Overview: Known Variant Analysis-1 Variant

Test Catalog

Test Name

Test ID: KVAR1    
Known Variant Analysis-1 Variant

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 test or proper submission of the test request

This test should be used for targeted and site-specific testing for sequence variants identified in the following genes:

ABCC9, ACTA2, ACTC1, ACTN2, ACVRL1, AKAP9, ANK2, ANKRD1, APOB, BRAF, CACNA1C, CACNA2D1, CACNB2, CAV3, CBL, CBS, COL3A1, CRYAB, CSRP3, DES, DSC2, DSG2, DSP, DTNA, ENG, FBN1, FBN2, GLA, GPD1L, HRAS, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEXN, NRAS, PKLR, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SHOC2, SKI, SLC2A10, SMAD3, SNTA1, SOS1, TACI (TNFRSF13B), TAZ, TCAP, TGFB2, TGFBR1, TGFBR2, TMEM43,TNNC1, TNNI3, TNNT2, TPM1,TTN, TTR, and VCL.

 

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

-BTKK / Bruton Tyrosine Kinase (BTK) Genotype, Known Mutation, which includes targeted and site-specific testing for the BTK gene

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

-UGTK / UDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene, Known Mutation, which includes targeted and site-specific testing for the UGT1A1 gene

-HHTM / Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Large Deletion/Duplication, Molecular Analysis, which includes targeted deletion or duplication testing for the ENG and ACVRL1 genes

-LDLM / Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis, which includes targeted deletion or duplication testing for the LDLR gene

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

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

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

Testing Algorithm Delineates situation(s) 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.

 

If the familial variant was previously identified at an outside laboratory, sending DNA from a family member with a positive genetic test result to be used as a positive control is strongly recommended to ensure that the specific familial variant can be detected by our laboratory. Proband samples should be sent as a separate (KVAR1) order, under the proband's identifiers (ie, do not send the patient and proband samples under the same order). If a positive control is not provided, negative results will be reported with a stated limitation that the laboratory's ability to detect the familial variant has not been confirmed and a false-negative result cannot be ruled out.

 

See Familial/Autosomal Dominant Hypercholesterolemia Diagnostic Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequencing Analysis

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

Yes

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Known Variant Analysis-1 Variant

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

ABCC9
ACTA2
ACTC1
Activin A Receptor, Type II-Like I
ACTN2
ACVRL1
ALK2
ANKRD1
Aortic aneurysm
Aortic dilatation
Aortic dissection
Aortopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Arrhythmogenic right ventricular dysplasia (ARVD)
Arterial tortuosity
Arteriovenous Malformations (AVM)
BRAF
BRS
Brugada syndrome
CACNA1C
CACNA2D1
CACNB2
Cardiofaciocutaneous (CFC)
Cardiomyopathy
CAV3
CBL
CBS
COL3A1
Costello Syndrome (CS)
CRYAB
CSRP3
DES
Dilated Cardiomyopathy (DCM)
DSC2
DSG2
DSP
DTNA
Endoglin
ENG
Familial Hypercholesterolemia (FH)
Familial Mutation
Familial Thoracic Aortic Aneurysm and Dissection (FTAAD)
FBN1
FBN2
GLA
GPD1L
Hereditary Hemorrhagic Telangiectasia (HHT)
HRAS
Hypercholesterolemia
Hypertrophic Cardiomyopathy (HCM)
JUP
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ5
KCNJ8
KCNQ1
Known Variant
Known Mutation
KRAS
LAMA4
LAMP2
LDB3
LDLR
Left ventricular non-compaction (LVNC)
LEOPARD Syndrome (LS)
LMNA
Loeys-Dietz syndrome
MAP2K1
MAP2K2
Marfan syndrome (MFS)
MASS
Mitral valve prolapse
MYBPC3
MYH11
MYH6
MYH7
MYL2
MYL3
MYLK
MYLK2
MYOZ2
MYPN
NEXN
Noonan Syndrome (NS)
NRAS
Osler-Rendu-Weber (ORW) Disease
Osler-Weber-Rendu (OWR) Disease
PKP2
PLN
PRKAG2
PTPN11
RAF1
RBM20
RYR2
SCN1B
SCN3B
SCN4B
SCN5A
SGCD
SHOC2
Shprintzen-Goldberg
SKI
SLC2A10
SMAD3
SNTA1
SOS1
TAZ
TCAP
Telangiectasia
TGFB2
TGFBR1
TGFBR2
Thoracic Aortic Aneurysm and Dissection (TAAD)
TMEM43
TNNC1
TNNI3
TNNT2
TPM1
TTN
TTR
Vascular aneurysm
VCL
Multiple Lentigines syndrome
APOB
PKLR
TACI
TNFRSF13B