01
triSure Single-gene NIPT
Targeting 7,500 de novo mutations in 30 genes related to 25 dominant single-gene disorders
>
0
%
The average detection rate at Gene Solutions test
1/
0
Combined incidence (1)
Who should consider Single-gene NIPT test?
- Advanced paternal age
- Abnormal ultrasound findings
- Family history of hereditary conditions
- Want to know
Testing Scopes:
Skeletal Disorders
- Achondroplasia FGFR3
- Hypochondroplasia FGFR3
- CATSHL syndrome FGFR3
- Thanatophoric dysplasia FGFR3
- Ehlers-Danlos syndrome COL1A1, COL1A2
- Osteogenesis imperfecta COL1A1, COL1A2
Syndromic Disorders
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Alagille syndrome JAG1
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CHARGE syndrome CHD7
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Cornelia de Lange syndrome NIPBL, SMC1A, SMC3, RAD21, HDAC8
- Epileptic encephalopathy CDKL5
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Intellectual disability SYNGAP1
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Rett syndrome MECP2
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Sotos syndrome NSD1
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Tuberous sclerosis TSC2, TSC1
Noonan Spectrum Disorders
- Cardiofaciocutaneous syndrome MAP2K1, MAP2K2
- Costello syndrome HRAS
- LEOPARD syndrome PTPN11, RAF1
- Noonan syndrome BRAF, HRAS, PTPN11, SOS1, RAF1, NRAS, RIT1, SOS2, KRAS, SHOC2, CBL
Craniosynostosis syndromes
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Antley-Bixler syndrome FGFR2
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Apert syndrome FGFR2
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Crouzon syndrome FGFR2
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Jackson_Weiss syndrome FGFR2
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Pfeiffer syndrome FGFR2
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Crouzon syndrome FGFR3
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Muenke syndrome FGFR3
References:
- (1) Zhang et al. Non-Invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-Free Fetal DNA. Nat Med. 2019.
