The Prequel NIPT Total® and Prequel NIPT Total Plus® tests, which combine the capabilities of Prequel NIPT Karyo® and Prequel NIPT Karyo Advance® with the genetic analysis provided by the Prequel 100 Gene Analysis test, allow the identification of 100 severe inherited genetic disorders (such as cystic fibrosis, beta thalassemia, etc.) in the fetus. A complete list of 100 monogenic diseases and mutations analyzed is available at the following link: https://bit.ly/VERAgeneMutations . These tests represent the most comprehensive level of information currently available in pregnancy through non-invasive prenatal screening. The main difference between Prequel NIPT Total® and Prequel NIPT Total Plus® is that in Prequel NIPT Total® the 9 different Microdeletion syndromes are not analysed.
The test will screen for the ‘chromosomal disorders’ listed below:
• Down Syndrome (Trisomy 21)
• Edwards Syndrome (Trisomy 18)
• Patau Syndrome (Trisomy 13)
• Turner Syndrome (XO)
• Klinefelter syndrome (XXY)
• Jacobs Syndrome (XYY)
• Triple X syndrome (XXX)
• Rare Autosomal Aneuploidies = abnormalities involving all chromosomes (apart from 21,18,13,X and Y, which are already screened for as above)
• Deletions and Duplications in any chromosome. These are missing or gained pieces of chromosomes (>7Mb)
• 9 different Microdeletion syndromes (analysed only for Prequel NIPT Total Plus®):
o 1p36 (1p36 deletion syndrome),
o 4p- (Wolf-Hirschhorn syndrome),
o 5p-(Cri-du-Chat syndrome),
o 15q11.2 (Prader-Willi / Angelman syndrome),
o 22q11.2 (DiGeorge syndrome), 8
o q24 (Langer-Giedion syndrome), 1
o 1q23 (Jacobsen syndrome)
o 17p11.2 (Smith-Magenis syndrome)
The test will also screen for 100 relevant ‘monogenic disorders’ including the very common cystic Fibrosis, beta-thalassemia and sickle cell disease. A full list of genes is shown below:
ACOX1, AGA, AGL, ALDH3A2, ALDOB, ALMS1, ASNS, ASPA, BBS1, BBS12, BCKDHB, BCS1L, BTD, CFTR, CHM, CLN8, CLRN1, COL4A5, CTSK, CYP19A1, DCLRE1C, DHDDS, DLD, DNAH5, DNAI1, EIF2B5, ELP1, ETFA, EYS, F11, FANCC, FANCG, G6PC, GBA, GLDC, GNE, GNS, HADHA, HAX1, HBB, HEXA, HGSNAT, HMGCL, HOGA1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LHCGR, LIFR, LIPA, LPL, LRPPRC, MCCC1, MCCC2, MFSD8, MMAA, MMACHC, MMADHC, MMUT, MPV17, MTM1, MTRR, MTTP, NBN, NPHS2, OAT, PAH, PCDH15, PDHB, PEX1, PEX2, PFKM, PKHD1, PMM2, RAB23, RAG2, RLBP1, SAMHD1, SEPSECS, SGCB, SLC12A6, SLC25A13, SLC25A15, SLC26A4, SLC35A3, SLC37A4, SLC7A7, SUMF1, TGM1, TMEM216, TPP1, TSFM, UGT1A1, VPS13A, VPS53, VRK1.
A full list of the associated disorders is shown below:
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency 1
3-Methylcrotonyl-CoA Carboxylase Deficiency 2
Abetalipoproteinemia
Acyl-CoA Oxidase I Deficiency
Aicardi-Goutières Syndrome
Alport Syndrome, X-Linked
Alstrom Syndrome
Andermann Syndrome
Aromatase Deficiency
Arthrogryposis Mental Retardation Seizures
Asparagine Synthetase Deficiency
Aspartylglycosaminuria
Autosomal Recessive Polycystic Kidney Disease
Bardet-Biedl Syndrome (BBS1-related)
Bardet Biedl Syndrome (BBS12-related)
Beta Thalassemia
Biotinidase Deficiency
Canavan Disease
Carpenter Syndrome
Choreacanthocytosis
Choroideremia, X-Linked
Citrin Deficiency
Combined Oxidative Phosphorylation Deficiency 3
Congenital Disorder of Glycosylation, Type 1A (PMM2-related)
Congenital Neutropenia (HAX1-related)
Crigler Najjar Syndrome, Type I
Cystic Fibrosis (Mutations tested cause the Classic Cystic Fibrosis phenotype)
Factor XI Deficiency
Familial Dysautonomia
Fanconi Anemia, Type C
Fanconi Anemia, Type G
Gaucher Disease
Glutaric Acidemia, Type 2A
Glycine Encephalopathy (GLDC-related)
Glycogen Storage Disease, Type 1A
Glycogen Storage Disease, Type 1B
Glycogen Storage Disease, Type 3
Glycogen Storage Disease, Type 7
GRACILE Syndrome
Hereditary Fructose Intolerance
Homocystinuria, Type cblE
Hydrolethalus Syndrome
Inclusion Body Myopathy, Type 2
Isovaleric Acidemia
Joubert Syndrome, Type 2
Junctional Epidermolysis Bullosa, Herlitz Type
Lamellar Ichthyosis, Type 1
Leber Congenital Amaurosis (LCA5-related)
Leigh Syndrome, French-Canadian Type
Leukoencephalopathy with Vanishing White Matter
Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]
Limb Girdle Muscular Dystrophy, Type 2E
Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]
Lipoprotein Lipase Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Lysinuric Protein Intolerance
Maple Syrup Urine Disease, Type 1B
Methylmalonic Acidemia (MMAA-related)
Methylmalonic Aciduria, Type mut(0)
Methylmalonic Aciduria and Homocystinuria, Type cblC
Methylmalonic Aciduria and Homocystinuria, Type cblD
Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked
Mucopolysaccharidosis, Type IIIC [Sanfilippo C]
Multiple Sulfatase Deficiency
Myotubular Myopathy, X-Linked
Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]
Neuronal Ceroid Lipofuscinosis (CLN8-related)
Neuronal Ceroid Lipofuscinosis (MFSD8-related)
Neuronal Ceroid Lipofuscinosis (TPP1-related)
Nijmegen Breakage Syndrome
Omenn Syndrome (RAG2-related)
Ornithine Aminotransferase Deficiency
Ornithine Translocase Deficiency [Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome]
Pendred Syndrome
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)
Phenylalanine Hydroxylase Deficiency (Phenylketonuria)
Pontocerebellar Hypoplasia, Type 1A
Pontocerebellar Hypoplasia, Type 2D
Pontocerebellar Hypoplasia, Type 2E
Primary Ciliary Dyskinesia (DNAH5-related)
Primary Ciliary Dyskinesia (DNAI1-related)
Primary Hyperoxaluria, Type 3
Pycnodysostosis
Pyruvate Dehydrogenase Deficiency (PDHB-Related)
Retinal Dystrophy [Bothnia Retinal Dystrophy] (RLBP1-related)
Retinitis Pigmentosa 25 (EYS-related)
Retinitis Pigmentosa 59 (DHDDS-related)
Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID]
Severe Combined Immunodeficiency, Type Athabaskan
Severe Combined Immunodeficiency, X-Linked
Sickle-Cell Disease
Sjögren-Larsson Syndrome
Steroid-Resistant Nephrotic Syndrome
Stuve-Wiedemann Syndrome
Tay-Sachs Disease
Usher Syndrome, Type 1F
Usher Syndrome, Type 3
Wolman Disease
Important to note: This test is offered to singleton and monochorionic pregnancies. In the case of vanishing twins please allow 5 weeks from the time the vanishing twin has been detected and taking this test.