Noonan Syndrome (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1)
Distinctive facial features, heart defects, short stature, bleeding disorders, developmental delays
Prequel NIPT Monogene
Comprehensive analysis that detects conditions that would NOT be identified by standard NIPT
Chromosomal Analysis (Karyo)
See Prequel NIPT Karyo description for chromosomal conditions detected.
102 Fetal Monogenic Disease Analysis
Comprehensive screening for single-gene disorders detectable in fetal DNA, including both dominant/de novo mutations (50 conditions) and recessive disorders (52 conditions).
Category 1: Dominant/De Novo Monogenic Diseases (50 genes)
These conditions arise from NEW mutations or dominant inheritance patterns, often occurring regardless of family history
RASopathies & Noonan Spectrum Disorders:
Cardiofaciocutaneous Syndrome (BRAF, MAP2K1, MAP2K2)
Severe heart defects, distinctive facial features, skin abnormalities, intellectual disability
LEOPARD Syndrome (BRAF, PTPN11)
Multiple lentigines, ECG abnormalities, ocular hypertelorism, pulmonary stenosis, growth retardation
Costello Syndrome (HRAS)
Severe developmental delays, heart defects, distinctive facial features, increased cancer risk
Skeletal Dysplasias (Lethal & Severe):
Achondroplasia (FGFR3)
Most common skeletal dysplasia; short limbs, macrocephaly, spinal stenosis
Hypochondroplasia (FGFR3)
Milder skeletal dysplasia with short stature
Thanatophoric Dysplasia (FGFR3)
Lethal skeletal disorder with severe limb shortening, narrow thorax
Craniosynostosis Syndromes:
Crouzon Syndrome (FGFR2)
Premature skull fusion, midface hypoplasia, proptosis
Pfeiffer Syndrome (FGFR1, FGFR2)
Craniosynostosis, broad thumbs/toes, developmental delays
Apert Syndrome (FGFR2)
Severe craniosynostosis, syndactyly, intellectual disability
Saethre-Chotzen Syndrome (TWIST1)
Craniosynostosis, facial asymmetry, limb abnormalities
Connective Tissue Disorders:
Marfan Syndrome (FBN1)
Aortic aneurysm risk, tall stature, lens dislocation, skeletal abnormalities
Ehlers-Danlos Syndrome, Vascular Type (COL3A1)
Arterial/organ rupture risk, thin translucent skin, easy bruising
Osteogenesis Imperfecta (COL1A1, COL1A2)
Brittle bone disease with multiple fractures, blue sclerae, hearing loss
Neurodevelopmental Disorders:
Rett Syndrome (MECP2)
Severe neurological disorder affecting females; developmental regression, loss of purposeful hand skills, seizures
Congenital Rett-like Syndrome (FOXG1)
Early-onset severe developmental impairment
Rubinstein-Taybi Syndrome (CREBBP, EP300)
Intellectual disability, broad thumbs/toes, distinctive facial features
Cornelia de Lange Syndrome (NIPBL, RAD21, SMC1A, SMC3, HDAC8, KAT6B)
Growth retardation, limb malformations, intellectual disability, distinctive facial features
Kabuki Syndrome (KMT2D)
Distinctive facial features, skeletal anomalies, intellectual disability, heart defects
Sotos Syndrome (NSD1)
Overgrowth, advanced bone age, distinctive facial features, learning difficulties
Pitt-Hopkins Syndrome (TCF4)
Severe intellectual disability, distinctive facial features, breathing abnormalities
Neurological & Seizure Disorders:
Dravet Syndrome (SCN1A)
Severe myoclonic epilepsy of infancy, developmental regression
Early Infantile Epileptic Encephalopathy (STXBP1)
Severe seizures from infancy, profound developmental delays
Brain Malformations:
Lissencephaly (PAFAH1B1, TUBA1A)
Smooth brain surface, severe intellectual disability, seizures
Tubulinopathy (TUBB2B)
Brain malformations including polymicrogyria/lissencephaly
Holoprosencephaly (SHH, ZIC2)
Failure of forebrain division, facial anomalies, variable severity
Other Severe Developmental Disorders:
CHARGE Syndrome (CHD7)
Coloboma, heart defects, choanal atresia, growth/developmental delays, genital/ear abnormalities
Treacher Collins Syndrome (TCOF1, POLR1C)
Craniofacial abnormalities, hearing loss, cleft palate
Craniofrontonasal Dysplasia (EFNB1)
Craniosynostosis, hypertelorism, craniofacial asymmetry
Holt-Oram Syndrome (TBX5)
Heart defects, upper limb abnormalities
Alagille Syndrome (JAG1, NOTCH2)
Liver disease, heart defects, distinctive facial features, vertebral anomalies
Genitopatellar Syndrome (KAT6B)
Patellar agenesis, genital abnormalities, intellectual disability
Tuberous Sclerosis Complex:
Tuberous Sclerosis 1 & 2 (TSC1, TSC2)
Benign tumors in multiple organs, seizures, autism, intellectual disability, skin lesions
Metabolic Disorders (X-linked):
Ornithine Transcarbamylase Deficiency (OTC)
Urea cycle disorder, hyperammonemia, intellectual disability, lethal in males
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
Hemolytic anemia triggered by infections, drugs, fava beans
Category 2: Recessive Fetal Monogenic Diseases (52 genes)
These conditions require BOTH parents to be carriers (or one parent carrier + one affected):
Metabolic Disorders - Fatty Acid Oxidation Defects:
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (ACADM)
Hypoketotic hypoglycemia, sudden infant death risk, liver disease
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) (ACADVL)
Cardiomyopathy, hypoglycemia, rhabdomyolysis
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) (HADHA)
Hypoglycemia, liver disease, cardiomyopathy, retinopathy
Metabolic Disorders - Organic Acidemias:
Methylmalonic Aciduria (MMAA, MMACHC, MMUT)
Metabolic crisis, developmental delays, kidney disease
Propionic Acidemia (PCCA, PCCB)
Metabolic decompensation, intellectual disability, cardiomyopathy
Isovaleric Acidemia (IVD)
"Sweaty feet" odor, metabolic crisis, developmental delays
Lysosomal Storage Disorders:
Tay-Sachs Disease (HEXA)
Progressive neurodegeneration, blindness, seizures, death by age 4
Sandhoff Disease (HEXB)
Similar to Tay-Sachs with additional organ involvement
Gaucher Disease (GBA1)
Hepatosplenomegaly, bone disease, neurological involvement (types 2 & 3)
Krabbe Disease (GALC)
Severe neurological deterioration, spasticity, blindness
Niemann-Pick Disease Type C (NPC1, NPC2)
Progressive neurodegeneration, hepatosplenomegaly, ataxia
Metachromatic Leukodystrophy (ARSA)
Progressive demyelination, developmental regression, paralysis
GM1 Gangliosidosis (GLB1)
Progressive neurodegeneration, skeletal abnormalities, hepatosplenomegaly
Mucopolysaccharidoses (MPS):
MPS Type I (Hurler/Scheie) (IDUA)
Developmental delays, skeletal abnormalities, corneal clouding, organomegaly
MPS Type II (Hunter Syndrome) (IDS)
Progressive developmental delays, coarse facial features, airway obstruction
MPS Type IIIB (Sanfilippo B) (NAGLU)
Severe behavioral problems, developmental regression
MPS Type IIIC (Sanfilippo C) (HGSNAT)
Similar to IIIB with behavioral/developmental issues
MPS Type VI (Maroteaux-Lamy) (ARSB)
Skeletal dysplasia, corneal clouding, normal intelligence
Mucolipidosis II/III (GNPTAB)
Developmental delays, skeletal abnormalities, coarse features
Common Genetic Diseases:
Cystic Fibrosis (CFTR)
Lung disease, pancreatic insufficiency, male infertility, shortened lifespan
Sickle Cell Disease (HBB)
Painful crises, anemia, stroke risk, organ damage
Beta Thalassemia (HBB)
Severe anemia requiring lifelong transfusions, iron overload
Phenylketonuria (PKU) (PAH)
Intellectual disability if untreated, requires lifelong dietary restriction
Congenital Hearing Loss (GJB2)
Profound deafness from birth
Glycogen Storage Diseases:
Pompe Disease (GSD Type II) (GAA)
Progressive muscle weakness, cardiomyopathy, respiratory failure
Other Metabolic Disorders:
Galactosemia (GALT)
Liver disease, intellectual disability, cataracts if untreated
Canavan Disease (ASPA)
Progressive brain degeneration, macrocephaly, blindness
Wilson Disease (ATP7B)
Copper accumulation, liver disease, neurological symptoms
Smith-Lemli-Opitz Syndrome (DHCR7)
Intellectual disability, multiple congenital anomalies, behavioral problems
Skeletal Ciliopathies:
Ellis-van Creveld Syndrome (EVC, EVC2)
Short-rib polydactyly, heart defects, short stature
Jeune Syndrome (Short-Rib Thoracic Dysplasia) (IFT140, DYNC2H1)
Narrow thorax, respiratory insufficiency, renal disease
Diastrophic Dysplasia (SLC26A2)
Severe short stature, joint contractures, club feet, cleft palate
Brain/Eye Ciliopathies:
Joubert Syndrome (CC2D2A, CEP290, RPGRIP1L, TMEM67)
"Molar tooth sign" on MRI, developmental delays, breathing abnormalities, eye abnormalities
Meckel Syndrome (CC2D2A, CEP290, RPGRIP1L, TMEM67)
Lethal; posterior fossa cyst, polydactyly, renal cysts, hepatic fibrosis
Multi-System Ciliopathies:
Bardet-Biedl Syndrome (BBS2)
Retinal degeneration, obesity, polydactyly, kidney disease, intellectual disability
Alström Syndrome (ALMS1)
Retinal degeneration, obesity, diabetes, cardiomyopathy, hearing loss
Other Recessive Conditions:
Congenital Muscular Dystrophy (MDC1A) (LAMA2)
Severe muscle weakness from birth, contractures
Familial Mediterranean Fever (MEFV)
Recurrent fever, serositis, amyloidosis risk
Alpha-1 Antitrypsin Deficiency (SERPINA1)
Lung disease (emphysema), liver disease
Niemann-Pick Disease Type A/B (SMPD1)
Type A: infantile neurodegenerative; Type B: milder with organomegaly
Congenital Disorder of Glycosylation (PMM2)
Multi-system disorder with neurological, hepatic, and coagulation abnormalities
Clinical Value of 102 Monogenic Panel
This comprehensive analysis detects conditions that: Would NOT be identified by standard NIPT (chromosomal screening); Include many severe/lethal disorders; Affect multiple organ systems (neurological, cardiac, metabolic, skeletal); Require specialized neonatal care if detected; Provide critical information for pregnancy management and family planning
