Mayo Clinic GeneGuide
Mayo Clinic GeneGuide™

Gene Variants Tested

Review a list of conditions and gene variants tested by Mayo Clinic GeneGuide™

Mayo Clinic GeneGuide™ does not test for every gene variant but instead tests
for some known to have correlations to disease risk.

For a medical consultation or comprehensive genetic testing, contact Mayo Clinic or your personal physician.

This is a list of variants for which Mayo Clinic GeneGuide™ tests. It is not your results.

Age-Related Macular Degeneration (ARMD)
Gene(s):
CFH, ARMS2
Variant(s) tested:
NM_000186.3(CFH):c.1204C=(p.His402=),
NM_001099667.1(ARMS2): c.205G>T (p.Ala69Ser)
Alcohol Flush Reaction
Gene(s):
ALDH2
Variant(s) tested:
NM_000690.3(ALDH2): c.1510G>A (p.Glu504Lys)
Atopic Dermatitis
Gene(s):
FLG
Variant(s) tested:
NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs), c.1501C>T (p.Arg501Ter)
Atrial Fibrillation
Gene(s):
ZFHX3, Intergenic
Variant(s) tested:
NM_001164766.1(ZFHX3):c.-24+40809G>A (rs2106261), NC_000004.12:g.110789013C>T (rs2200733)
Coronary Artery Disease (CAD)
Gene(s):
SORT1, LPA, Intergenic
Variant(s) tested:
NM_001408.2(SORT1):c.*1859C>T (rs646776), NM_005577.2(LPA):c.5673A>G (p.I1891M) (rs3798220), NC_000009.12:g.22098575A>G (rs4977574)
Cystic Fibrosis
Gene(s):
CFTR
Variant(s) tested:
NM_000492.3(CFTR): c.254G>A (p.Gly85Glu), c.350G>A (p.Arg117His), c.489+1G>T, c.579+1G>T, c.1000C>T (p.Arg334Trp), c.1040G>C (p.Arg347Pro), c.1364C>A (p.Ala455Glu), c.1519 1521delATC (p.Ile507del), c.1521 1523delCTT (p.Phe508del), c.1585-1G>A, c.1624G>T (p.Gly542Ter), c.1652G>A (p.Gly551Asp), c.1657C>T (p.Arg553Ter), c.1679G>C (p.Arg560Thr), c.1766+1G>A, c.2052delA (p.Lys684Asnfs), c.2657+5G>A, c.2988+1G>A, c.3484C>T (p.Arg1162Ter), c.3528delC (p.Lys1177Serfs), c.3717+12191C>T, c.3846G>A (p.Trp1282Ter), c.3909C>G (p.Asn1303Lys)
GJB2-Related Hearing Loss
Gene(s):
GJB2
Variant(s) tested:
NM_004004.5(GJB2): c.35delG (p.Gly12Valfs), c.71G>A (p.Trp24Ter), c.109G>A (p.Val37Ile), c.167delT (p.Leu56Argfs), c.229T>C (p.Trp77Arg), c.235delC (p.Leu79Cysfs), c.269T>C (p.Leu90Pro), c.358_360delGAG (p.Glu120del)
Ibuprofen Metabolism
Gene(s):
CYP2C9
Variant(s) tested:
NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys) (rs1799853), NM_000771.3(CYP2C9):c.1075A>C (p.Ile359Leu) (rs1057910)
Lactase Persistence
Gene(s):
MCM6
Variant(s) tested:
NM_005915.5(MCM6):c.1917+326C>T, NM_005915.5(MCM6):c.1362+117G>A
Malignant Hyperthermia Susceptibility
Gene(s):
RYR1, CACNA1S
Variant(s) tested:
NM_000540.2(RYR1):c.103T>C (p.Cys35Arg), c.487C>T (p.Arg163Cys), c.488G>T (p.Arg163Leu), c.742G>A (p.Gly248Arg), c.742G>C (p.Gly248Arg), c.1021G>A (p.Gly341Arg), c.1021G>C (p.Gly341Arg), c.1201C>T (p.Arg401Cys), c.1209C>G (p.Ile403Met), c.1565A>C (p.Tyr522Ser), c.1589G>A (p.Arg530His), c.1654C>T (p.Arg552Trp), c.1840C>T (p.Arg614Cys), c.1841G>T (p.Arg614Leu), c.6487C>T (p.Arg2163Cys), c.6488G>A (p.Arg2163His), c.6502G>A (p.Val2168Met), c.6617C>G (p.Thr2206Arg), c.7007G>A (p.Arg2336His), c.7048G>A (p.Ala2350Thr), c.7124G>C (p.Gly2375Ala), c.7282G>A (p.Ala2428Thr), c.7300G>A (p.Gly2434Arg), c.7304G>A (p.Arg2435His), c.7360C>T (p.Arg2454Cys), c.7361G>A (p.Arg2454His), c.7372C>T (p.Arg2458Cys), c.7373G>A (p.Arg2458His), c.7522C>T (p.Arg2508Cys), c.7523G>A (p.Arg2508His), c.14387A>G (p.Tyr4796Cys), c.14477C>T (p.Thr4826Ile), c.14497C>T (p.His4833Tyr), c.14512C>G (p.Leu4838Val), c.14545G>A (p.Val4849Ile), c.14582G>A (p.Arg4861His), c.14693T>C (p.Ile4898Thr)

NM_000069.2(CACNA1S): c.520C>T (p.Arg174Trp) c.3257G>A (p.Arg1086His)
MCAD Deficiency
Gene(s):
ACADM
Variant(s) tested:
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile), NM_000016.5(ACADM):c.449_452delCTGA (p.Thr150Argfs), NM_000016.5(ACADM):c.985G>A (p.Lys329Glu), NM_000016.5(ACADM):c.1102_ 1105delTTAG (p.Ala369Leu), NM_000016.5(ACADM):c.799G>A (p.Gly267Arg)
Omeprazole Metabolism
Gene(s):
CYP2C19
Variant(s) tested:
NM_000769.2(CYP2C19):c.-806C>T (rs12248560), NM_000769.2(CYP2C19):c.636G>A (p.Trp212Ter) (rs4986893), NM_000769.2(CYP2C19):c.681G>A (p.Pro227=) (rs4244285)
Pseudocholinesterase Deficiency
Gene(s):
BCHE
Variant(s) tested:
NM_000055.3(BCHE): c.293A>G (p.Asp98Gly), c.1574A>T (p.Glu525Val), c.1072T>A (p.Leu358Ile), c.1004T>C (p.Leu335Pro), c.812C>T (p.Thr271Met), c.467A>G (p.Tyr156Cys), c.435delTinsAG (p.Phe146Valfs)
Sickle Cell Disease
Gene(s):
HBB
Variant(s) tested:
NM_000518.4(HBB): Hb S: c.20A>T (p.Glu7Val), Hb C: c.19G>A (p.Glu7Lys)
Venous Thromboembolism
Gene(s):
F2, F5
Variant(s) tested:
NM_000506.4(F2): c.*97G>A
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)