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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
-
Pendred syndrome / Nonsyndromic hearing loss SLC26A4
Blood Disorders
-
Alpha thalassemia HBA1, HBA2
-
Beta thalassemia HBB
-
G6PD deficiency G6PD
-
Hemophilia A F8, X-linked
Neuro-metabolic (subgroup of Metabolic)
-
Primary carnitine deficiency SLC22A5
-
Niemann-Pick disease SMPD1
-
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.
