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【Infertility Test for Couples】 Gene-Checker - Both Partners (Infertility) Gene Checker, Doctor-Supervised Genetic Testing Kit

￥198,000（税込）

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アイテム説明
 

※This product is for 2 persons

About Gene-Checker (Infertility)

Inspection Overview

Infertility is thought to affect approximately one in six couples worldwide, with male infertility accounting for about 35% and female infertility about 45% (the remaining cases are a combination of both).
Further to the breakdown, biochemical and instrumental tests such as hormonal tests, ultrasound and semen tests can identify up to 65% of infertility cases, and 10-15% of all men and women have genetic changes associated with infertility.
Gene-Checker (Infertility) is a genetic test for infertility that screens for genetic mutations in individuals who have difficulty conceiving.Gene-Checker (Infertility) provides an accurate prognostic assessment by identifying genetic mutations associated with infertility and sex chromosome disorders, and helps identify treatment options. and help to identify treatment options.

  
Eligible Persons

・Women who have had a previous hyperemesis gravidarum
・Women with irregular or no menstruation
・Suspected sexual development disorder
・Women who plan to undergo assisted reproductive technology (ART) treatment
・Candidates for sperm or egg donation
・Those with a family history of infertility
・Those who have had two or more miscarriages
・Those with a family history of neonatal alloimmune thrombocytopenia (NAIT)


Notes

The assay does not identify all mutations associated with the disease being tested. Although the assay is very accurate, false positive or false negative results may occur. This is due to technical and/or biological limitations, including, for example, sample mislabelling, inaccurate reporting of clinical medical information, rare technical errors and other events. Genetic changes not detected by Gene-Checker (infertility) may also be associated with disease. Although genetic testing is an important part of the diagnostic process, it does not always provide definitive answers. In some cases, a genetic variant may be present but not identified by testing. This is due to the limitations of current medical knowledge and testing techniques. Clinical correlation with other clinical data and tests is recommended. Results should always be considered in the context of other clinical criteria. The referring physician should be responsible for providing pre- and post-test counselling and advice on the need for additional genetic testing, and other diagnostic tests may still be required.


Testable Diseases and Corresponding Genes

Female Infertility Panel

AIRE

EIF2B3

GALT

IRS2

PROKR2

ANOS1

FEZF1

GDF9

KISS1

PSMC3IP

BMP15

FGF8

GNAS

KISS1R

SEMA3A

CAPN10

FGF17

GNRH1

LHB

SPRY4

CHD7

FGFR1

GNRHR

LHCGR

STAG3

CYP11A1

FIGLA

HESX1

NOBOX

TAC3

CYP17A1

FLRT3

HS6ST1

NR5A1

TACR3

CYP19A1

FMR1

IL17RD

NSMF

THADA

DENND1A

FOXL2

INS

POF1B

WDR11

DUSP6

FSHB

INSR

POLG

WT1

EIF2B2

FSHR

IRS1

PROK2

ZP1

     

 


 Thrombosis and Neonatal Alloimmune Thrombocytopenia (NAIT) Panel

DISORDER /

COMMON NAME

GENE

VARIANT 

ALTERNATIVE

NOMENCLATURE

Factor V Leiden

F5

NM_000130.4(F5):c.1601G>A (p.Arg534Gln)

G1691A

F5, ARG506GLN

R506Q

Factor V Leiden

Factor V R2

F5

NM_000130.4(F5):c.3980A>G (p.His1327Arg)

FV R2 H1299R

A4070G

R2 allele

Factor XIII 

F13A1

NM_000129.3(F13A1):c.103G>T (p.Val35Leu)

p.Val34Leu

F13A1

VAL34LEU

V34L

HPA-1

ITGB3

NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro)

L33P

HPA-2

GP1BA

NM_000173.7(GP1BA):c.482C>T (p.Thr161Met)

rs6065

HPA-3

ITGA2B

NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) 

I843S

HPA-4

ITGB3

NM_000212.2(ITGB3):c.506G>A (p.Arg169Gln)

R143Q

HPA-5

ITGA2

NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys)

Not available

HPA-6

ITGB3

NM_000212.2(ITGB3):c.1544G>A (p.Arg515Gln) 

R489Q

PAI-1　4G/5G 

SERPINE1

NM_000602.5(SERPINE1):c.-820G[(4_5)]

4G/5G

MTHFR

MTHFR

NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)

C677T

MTHFR

677C-T

ALA222VAL (rs1801133)

MTHFR

MTHFR

NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala)

MTHFR

1298A-C

A1298C

GLU429ALA (rs1801131)

MTHFR

MTHFR

NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala)

MTHFR

1298A-C

A1298C

GLU429ALA (rs1801131)

ACE (I/D) 

ACE

NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1: g.14094_14382

ACE/ID polymorphism

INS/DEL (rs1799752)

Apo B

APOB

NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)

R3500Q

9775G>A

Apo E

APOE

NM_000041.2(APOE):c.526C>T (p.Arg176Cys) 

R158C

R148C

Apo E

APOE

NM_000041.4(APOE):c.388T>C (p.Cys130Arg)

C112R

ApoE4

MTR

MTR

NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) 

p.D919G:GAC>GGC

2756A-G

MTRR

MTRR

NM_002454.3(MTRR):c.66A>G (p.Ile22Met) 

p.I49M:ATA>ATG

AGT

AGT

NM_000029.4(AGT):c.803T>C (p.Met268Thr)

M235T

NM_000029.3:c.803T>C

AGTR1

AGTR1

NM_031850.3(AGTR1):c.*86A>C

A1166C

GSTP1

GSTP1

NM_000852.4(GSTP1):c.313A>G (p.Ile105Val)

rs1695

GSTP1*B

Prothrombin

F2

NM_000506.5(F2):c.*97G>A

F2 rs1799963

20210G-A

G20210A


 

  • システム商品コード
    ：000000003565
  • 独自商品コード
    ：GC-ROD003
  • 製造元
    ：日本
  • 原産地
    ：キプロス

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