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* ISO 15189:2022 Lab Standard EMQN Proficiency Testing
Testing Scopes of triSure NIPT (All-in-1):
Trusted by 4,500+ hospitals & clinics in Asia
01
triSure Traditional NIPT
Aneuploidies and microdeletion
Scope of different triSure packages based on American College of Medical Genetics and Genomics (ACMG) guideline (1)
Who should consider Traditional NIPT test?
- All pregnant women
ACMG Recommendation(1): At This Time, There Is Insufficient Evidence to Recommend Routine Screening for CNVs Other Than 22q11.2 Deletions (No Recommendation, Owing to Lack of Clinically Relevant Evidence and Validation)
Testing Scopes:
- Fetal Trisomies 21, 18, 13
- Fetal SCA (Sex Chromosome Aneuploidy): 45 Turner Syndrome (XO), 47 Triple X Syndrome (XXX), 47 Klinefelter Syndrome (XXY, XXXY), 47 Jacobs Syndrome (XYY)
- 22q11.2 Deletions (Di George Syndrome)
- Rare Autosomal Trisomies: 1-12, 12-17, 19-20, 22
References:
- (1) Dungan JS, et al.; ACMG Board of Directors. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023.
- (2) Nguyễn, P. T. V., et al. Establishment and assessment of a non-invasive prenatal testing protocol for di george syndrome. Vietnam Medical Journal. 2024.
- (3) Petersen, et al. Positive Predictive Value Estimates for Cell-Free Noninvasive Prenatal Screening from Data of a Large Referral Genetic Diagnostic Laboratory. American Journal of Obstetrics and Gynecology. 2017.
- (4) Avram et al. Cell-Free Fetal DNA Screening for Detection of Microdeletion Syndromes: A Cost-Effectiveness Analysis. The Journal of Maternal-Fetal & Neonatal Medicine. 2021.
02
triSure Carrier NIPT
Targeting 7,535 mutations in 22 genes related to 18 carrier diseases from mother
18 Recessive disorders based on American College of Medical Genetics and Genomics (ACMG) guideline (1)
ACMG: “All pregnant patients and those planning a pregnancy should be offered Tier 3 carrier screening for autosomal recessive (carrier frequency ≥1/200) and X-linked conditions”.
Who should consider Carrier NIPT test?
- Prenatal screening for pregnant women
- Parents are preparing for IVF (a screening gene test)
- Those planning to marry should have premarital latent disease screening to determine the best possible pregnancy plan
Testing Scopes:
Nervous System & Neurodevelopment
- Adrenoleukodystrophy (ALD) ABCD1, X-linked
- Charcot-Marie-Tooth disease type 2S IGHMBP2
Hearing
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Pendred syndrome / Nonsyndromic hearing loss SLC26A4
Blood Disorders
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Alpha thalassemia HBA1, HBA2
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Beta thalassemia HBB
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G6PD deficiency G6PD
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Hemophilia A F8, X-linked
Neuro-metabolic (subgroup of Metabolic)
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Primary carnitine deficiency SLC22A5
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Niemann-Pick disease SMPD1
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Spinal muscular atrophy (SMA) ☑Optional SMN1
Respiratory
- Cystic fibrosis CFTR
Renal
- Polycystic kidney disease (PKD) PKHD1
Metabolic Disorders
- Citrin deficiency SLC25A13
- Pompe disease GAA
- Phenylketonuria (PKU) PAH
- Wilson’s disease ATP7B
- Galactosemia GALT
- Ornithine transcarbamylase deficiency (OTC) OTC, X-linked
Endocrine & Reproductive
-
5-alpha reductase deficiency SRD5A2
-
Congenital Adrenal Hyperplasia (CAH) ☑Optional CYP21A2
References:
- (1) Gregg et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021.
03
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.
