Prequel NIPT Total Family

Trisomies 9, 13, 16, 18, 21 and all rare autosomal trisomies

All sex chromosome aneuploidies

Genome-wide CNV detection >7Mb across all chromosomes

23 clinically significant microdeletions <1Mb

Superior 1Mb resolution for comprehensive chromosomal screening

Achondroplasia, Thanatophoric dysplasia (FGFR3)

Osteogenesis imperfecta (COL1A1, COL1A2)

Crouzon, Pfeiffer, Apert syndromes (FGFR1, FGFR2)

Saethre-Chotzen syndrome (TWIST1)

Noonan syndrome (multiple genes: PTPN11, SOS1, RAF1, KRAS, etc.)

Cardiofaciocutaneous syndrome (BRAF, MAP2K1, MAP2K2)

Costello syndrome (HRAS)

LEOPARD syndrome (PTPN11, BRAF)

Rett syndrome (MECP2) – X-linked dominant, lethal in males

Rubinstein-Taybi syndrome (CREBBP, EP300)

Cornelia de Lange syndrome (NIPBL, SMC1A, SMC3, RAD21, HDAC8)

Kabuki syndrome (KMT2D)

Sotos syndrome (NSD1)

Pitt-Hopkins syndrome (TCF4)

Marfan syndrome (FBN1) – Life-threatening aortic complications

Ehlers-Danlos syndrome, vascular type (COL3A1) – Arterial rupture risk

Dravet syndrome (SCN1A)

Early infantile epileptic encephalopathy (STXBP1)

Lissencephaly (PAFAH1B1, TUBA1A)

Holoprosencephaly (SHH, ZIC2)

CHARGE syndrome (CHD7)

Tuberous sclerosis (TSC1, TSC2)

Treacher Collins syndrome (TCOF1, POLR1C)

Alagille syndrome (JAG1, NOTCH2)

Holt-Oram syndrome (TBX5)

Plus 20+ additional severe dominant disorders

Cystic fibrosis (CFTR)

Spinal muscular atrophy (SMN1)

Fragile X syndrome (FMR1)

Sickle cell disease, beta thalassemia (HBB)

Alpha thalassemia (HBA1, HBA2)

Tay-Sachs (HEXA), Canavan (ASPA), Familial dysautonomia (IKBKAP)

Gaucher disease (GBA), Bloom syndrome (BLM)

Niemann-Pick A/B (SMPD1), Mucolipidosis IV

Fanconi anemia group C (FANCC), Usher syndrome

Plus additional Ashkenazi-prevalent conditions

Mucopolysaccharidoses types I, II, IIIA, IIIB, IIIC, IVA, VI, VII (IDUA, IDS, SGSH, NAGLU, HGSNAT, GALNS, ARSB, GUSB)

Krabbe disease (GALC), Metachromatic leukodystrophy (ARSA)

GM1 gangliosidosis (GLB1), Sandhoff disease (HEXB)

Pompe disease (GAA), Niemann-Pick C (NPC1, NPC2)

Mucolipidosis II/III (GNPTAB, GNPTG)

Fucosidosis (FUCA1), Alpha-mannosidosis (MAN2B1)

Phenylketonuria (PAH), Maple syrup urine disease (BCKDHA, BCKDHB, DBT)

Homocystinuria (CBS), Tyrosinemia types I, II, III (FAH, TAT, HPD)

Alkaptonuria (HGD), Nonketotic hyperglycinemia (GLDC, AMT, GCSH)

Methylmalonic aciduria (MUT, MMAA, MMAB, MMACHC)

Propionic acidemia (PCCA, PCCB), Isovaleric acidemia (IVD)

Glutaric acidemia types I & II (GCDH, ETFA, ETFB, ETFDH)

3-Methylcrotonyl-CoA carboxylase deficiency (MCCC1, MCCC2)

MCAD (ACADM), VLCAD (ACADVL), LCHAD (HADHA)

SCAD (ACADS), CPT I & II deficiencies (CPT1A, CPT2)

Multiple acyl-CoA dehydrogenase deficiency (ETFDH)

Citrullinemia (ASS1), Argininosuccinic aciduria (ASL)

Arginase deficiency (ARG1), Carbamoyl phosphate synthetase deficiency (CPS1)

Type I (G6PC), Type II/Pompe (GAA), Type III (AGL)

Type IV (GBE1), Type V (PYGM), Type VII (PFKM)

Zellweger spectrum (PEX1, PEX2, PEX6, PEX10, PEX12, PEX26)

X-linked adrenoleukodystrophy (ABCD1)

Refsum disease (PHYH, PEX7)

Hemoglobinopathies: sickle cell, thalassemias (HBB, HBA1, HBA2)

Fanconi anemia, all complementation groups (FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM)

Factor deficiencies: Factor XI (F11), Factor V (F5), Factor VIII/Hemophilia A (F8), Factor IX/Hemophilia B (F9)

G6PD deficiency (G6PD), Pyruvate kinase deficiency (PKLR)

Severe combined immunodeficiency (SCID) subtypes: ADA, JAK3, IL2RG, RAG1, RAG2, DCLRE1C, CD3D, CD3E

Chronic granulomatous disease (CYBB, CYBA, NCF1, NCF2)

Wiskott-Aldrich syndrome (WAS), X-linked agammaglobulinemia (BTK)

Hyper-IgE syndrome (DOCK8), Hyper-IgM syndrome (CD40LG)

Common variable immunodeficiency (ICOS, CD19, TNFRSF13B)

GJB2 (most common), GJB6, MYO15A, OTOF, SLC26A4, CDH23, PCDH15, USH2A, STRC, TMC1, MYO7A, and 40+ additional deafness genes

Usher syndrome types 1, 2, 3 (MYO7A, USH1C, CDH23, PCDH15, USH2A, GPR98, CLRN1)

Retinitis pigmentosa (100+ genes including RHO, RP1, RP2, RPGR, USH2A, EYS)

Leber congenital amaurosis (GUCY2D, RPE65, CRB1, CRX, AIPL1, CEP290)

Stargardt disease (ABCA4), Best disease (BEST1)

Bardet-Biedl syndrome (20 BBS genes)

Spinal muscular atrophy (SMN1) – most common carrier screened

Duchenne/Becker muscular dystrophy (DMD)

Limb-girdle muscular dystrophies (CAPN3, DYSF, SGCA, SGCB, SGCG, FKRP, FKTN, ANO5)

Congenital muscular dystrophies (LAMA2, COL6A1/2/3, FKRP, POMT1/2, LARGE)

Charcot-Marie-Tooth disease, all types (PMP22, GJB1, MPZ, MFN2, GDAP1, 40+ genes)

Friedreich ataxia (FXN), various spinocerebellar ataxias

Bardet-Biedl syndrome (BBS1, BBS2, BBS4, BBS7, BBS10, BBS12, plus 14 additional BBS genes)

Joubert syndrome (20+ genes: AHI1, CC2D2A, CEP290, RPGRIP1L, TMEM67, etc.)

Meckel-Gruber syndrome (MKS1, TMEM67, CEP290, CC2D2A, RPGRIP1L)

Nephronophthisis (NPHP1, NPHP3, NPHP4, 20+ genes)

Primary ciliary dyskinesia (DNAH5, DNAI1, DNAI2, CCDC39, CCDC40, 40+ genes)

Alström syndrome (ALMS1)

Jeune syndrome/short-rib thoracic dysplasia (IFT80, IFT140, DYNC2H1, WDR19, 15+ genes)

Diastrophic dysplasia (SLC26A2)

Ellis-van Creveld syndrome (EVC, EVC2)

Cartilage-hair hypoplasia (RMRP)

Spondyloepiphyseal dysplasias (COL2A1, COL11A1, COL11A2)

Multiple epiphyseal dysplasias (COMP, COL9A2, COL9A3, MATN3)

Achondrogenesis type 1B (SLC26A2), type II (COL2A1)

Hypophosphatasia (ALPL), Hypophosphatemic rickets (PHEX, DMP1, ENPP1)

Ehlers-Danlos syndrome, multiple types (COL5A1, COL5A2, COL1A1, COL1A2, TNXB, PLOD1, FKBP14)

Osteogenesis imperfecta, recessive forms (CRTAP, P3H1, PPIB, SERPINF1, WNT1)

Epidermolysis bullosa, all types (KRT5, KRT14, COL7A1, COL17A1, LAMA3, LAMB3, LAMC2, ITGA6, ITGB4)

Ichthyosis (ABCA12, TGM1, ALOX12B, ALOXE3, CYP4F22, NIPAL4, STS)

Ectodermal dysplasias (EDA, EDAR, EDARADD, TP63)

Harlequin ichthyosis (ABCA12)

Netherton syndrome (SPINK5)

Polycystic kidney disease, recessive (PKHD1)

Nephronophthisis (20+ NPHP genes)

Alport syndrome, recessive (COL4A3, COL4A4)

Cystinosis (CTNS), Cystinuria (SLC3A1, SLC7A9)

Bartter syndromes (SLC12A1, KCNJ1, CLCNKB, BSND, CASR)

Dent disease (CLCN5, OCRL)

Long QT syndrome (KCNQ1, KCNH2, SCN5A, 15+ genes)

Catecholaminergic polymorphic VT (RYR2, CASQ2)

Arrhythmogenic right ventricular cardiomyopathy (PKP2, DSP, DSG2, DSC2, JUP)

Dilated cardiomyopathy genes (TTN, LMNA, MYH7, TNNT2, 40+ genes)

Hypertrophic cardiomyopathy genes (MYBPC3, MYH7, TNNT2, 15+ genes)

Alpha-1 antitrypsin deficiency (SERPINA1)

Wilson disease (ATP7B)

Hemochromatosis (HFE, HJV, HAMP, TFR2, SLC40A1)

Progressive familial intrahepatic cholestasis types 1, 2, 3 (ATP8B1, ABCB11, ABCB4)

Crigler-Najjar syndrome (UGT1A1), Dubin-Johnson syndrome (ABCC2)

Hereditary fructose intolerance (ALDOB)

Congenital adrenal hyperplasia (CYP21A2, CYP11B1, HSD3B2, CYP17A1, CYP11A1)

Multiple endocrine neoplasia types (MEN1, RET)

Pseudohypoparathyroidism (GNAS)

Thyroid dyshormonogenesis (TPO, TG, DUOX2, DUOXA2, SLC5A5)

Neuronal ceroid lipofuscinoses (CLN3, CLN5, CLN6, CLN8, 10+ genes)

Leukodystrophies (ARSA, PSAP, PLP1, GJC2, EIF2B1-5, ASPA, 30+ genes)

Ataxias (SACS, SETX, ANO10, SYNE1, 40+ genes)

Spastic paraplegias (SPG3A, SPG4, SPG7, SPG11, 70+ genes)

Microcephaly primary (ASPM, WDR62, CDK5RAP2, CENPJ, 20+ genes)

Pontocerebellar hypoplasias (TSEN54, RARS2, EXOSC3, 10+ genes)

Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)

Li-Fraumeni syndrome (TP53)

Familial adenomatous polyposis (APC, MUTYH)

BRCA1/2-associated hereditary breast/ovarian cancer

Neurofibromatosis types 1 & 2 (NF1, NF2)

Von Hippel-Lindau disease (VHL)

Ashkenazi Jewish (30+ conditions screened)

Finnish (10 conditions including aspartylglucosaminuria, congenital nephrosis)

French Canadian (Leigh syndrome, Tay-Sachs carrier variants)

Mediterranean (thalassemias, familial Mediterranean fever, G6PD)

Asian (alpha thalassemia, GJB2 hearing loss variants)

African (sickle cell, G6PD, alpha thalassemia)

Identifies at-risk couples where BOTH partners carry mutations in the same gene

25% chance of affected child for each pregnancy when both are carriers

Detects risks that would be missed by maternal-only screening

X-linked carrier females have 50% chance of affected sons

Prenatal diagnosis (CVS/amniocentesis)

Preimplantation genetic testing (PGT-M) with IVF

Use of donor gametes

Adoption

Informed reproductive decision-making

One-time testing provides information for ALL future pregnancies

Siblings can use results for their own family planning

Extended family cascade screening

Lifetime reproductive genetic intelligence

Approximately 1 in 2-3 individuals is a carrier for at least one recessive disorder

Approximately 1 in 150-300 couples are at 25% risk for a serious recessive condition

Expanded carrier screening detects 5-10x more at-risk couples than limited panels

Fetal Chromosomal Analysis

Comprehensive karyotype-level screening for all aneuploidies, CNVs, and microdeletions

Fetal De Novo Disease Analysis

50 severe dominant disorders arising as new mutations

Couple Carrier Screening

900+ gene analysis of BOTH parents for recessive/X-linked conditions

Current Pregnancy Information

Complete genetic risk assessment for the fetus

Future Reproductive Planning

Lifetime carrier information for all future pregnancies

Family Risk Assessment

Information relevant to siblings and extended family

Who Should Consider Total Family:

• Couples planning multiple children
• Consanguineous couples (elevated recessive risk)
• Specific ethnic backgrounds with elevated carrier frequencies
• Family history of genetic conditions
• Previous child with genetic condition
• Recurrent pregnancy loss
• Infertility or planning IVF with PGT
• Couples desiring maximum genetic information for life-long family planning
• Advanced maternal age seeking comprehensive assessment

Unique Advantages:

• One Test, Lifetime Value: Carrier results valid for all future pregnancies
• Both Partners Screened: Identifies at-risk couples, not just maternal carriers
• Maximum Detection: 900 genes vs. 20-100 in standard panels
• Fetal + Parental: Complete genetic picture for entire family
• Cost-Effective: Combined testing more economical than separate tests
• Comprehensive Counseling: Enables complete reproductive risk assessment and planning