Obstetric genetics

FERTISCAN TEST

WHAT IS FERTISCAN?

A study by the Italian National Institutes of Health indicates that infertility affects 15% of couples and equally affects men and women.

About 10-15% of male infertility cases and 8-10% of female infertility cases are related to genetic changes, which can include chromosomal abnormalities or single gene mutations.

20% of cases are defined as “idiopathic infertility” because the underlying cause cannot be definitively diagnosed.

FERTISCAN

As a test to determine the genetic cause of infertility and the rarest genetic abnormalities associated with infertility and recurrent miscarriages in women; as well as an assessment of male reproductive health, to identify the most common genetic causes of male infertility.

It is the first genetic test in Vietnam that analyzes 120 genes simultaneously to help assess the cause of genetic infertility in both men and women.

70 genes for female infertility linked to

  • Primary ovarian failure
  • Ovarian dysfunction
  • Ovarian dysgenesis
  • Embryos stop developing
  • Repeated miscarriage
  • Egg cell defects

50 genes for male infertility linked to

  • Infertility
  • Weaknesses
  • Abnormal sperm morphology

SUBJECTS SHOULD BE TESTED

  • Female infertility (ovarian failure, ovarian dysfunction, recurrent miscarriage,...)
  • Tested Karyotype, CFTR, Thrombophilia, Fragile X but no abnormalities were detected
  • Men with infertility ( azoospermia , low sperm count , abnormal sperm morphology , .. )
  • Tested for Karyotype, CFTR, AZF but no abnormality was detected

FERTISCAN TEST IN GENTIS

Is the first genetic test in Vietnam to help evaluate at the same time panel >120 genes that are the genetic cause of infertility in men and women.

FERTISCAN test - WOMEN Simultaneous analysis of 70 genes to determine the cause of female infertility

STATUS GROUP

GENE

Repeated miscarriage

ANXA5,CGB3,KHDC3L,NLRP7

Ovarian failure

BMP15,DIAPH2,EIF2B4,EIF2B5,ESR1,ESR2,FANCF,FIGLA,FMR1,FOXL2,GALT,HARS2,HFM1,LARS2,MCM8,MCM9,MSH5,NOBOX,PMM2,POF1B

Embryos stop developing

TLE6,TUBB8,KHDC3L,PADI6

Polycystic Ovary

CAPN10,CYP11A1,CYP19A1,CYP17A1,GDF9

Fertilization process

CD46,CDE250,CLPP

Hypogonadism

FSHB,FSHR,GNRH1,GNRHR,KISS1,KISS1R,PROKR1

Others 

CYP21A2,EYF2B2,FOXP3,HSD17B4,IRH1,LHB,LHCGR

MRPS22,NLRP10,NUP107,OSBPL5,PADI6,PATL2

 

FERTISCAN TEST - MEN Simultaneous analysis of 50 genes to determine the cause of male infertility

Status group

GENE

Sperm morphology

AK7,QURKC,BRDT,CATSPER1,CATSPER2,CFAP43,CFAP69,DP19L2,SUN5,DNAH1

Infertility, oligospermia, failed spermatogenesis

ADGRG2,CFTR,NANOF1,TEX11,TEX14,TEX15,CFAP44,

DNAH6,FANCM,FHSB,GALNTL5,GATA4,HSF2,SPATA16

Disorders of sexual development

AR,LHCRG,NROB1,NR5A1,SRY,FSHR

Technology: Next Generation Sequencing (NGS) - Full Exome Sequencing Technique.

Samples used: 2 - 3ml of whole blood in EDTA . anticoagulation tubes

Sample preservation: Store in a refrigerator (0-4°C), send samples to GENTIS up to 2 days from the time of sampling

Time to return results: 3-4 weeks (excluding Saturdays, Sundays and public holidays)

FERTISCAN TEST PROCESS IN GENTIS

Sample collection kit: The kit is housed in a dedicated box provided by GENTIS:

- EDTA blood tube

- Blood collection needle set

- Biosafety bag

- Patient information declaration form

FERTISCAN test at GENTIS

  • Simple: 3ml blood sample
  • Accuracy : Sensitivity and specificity over 99%
  • Trust : In-depth investigation to determine genetic causes of infertility
  • Quality assurance: Advanced technology and sophisticated bioinformatics analysis
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