GxVISION® Carrier Screening Introduction

Carrier screening is genetic testing that determines whether an asymptomatic person has a genetic mutation or abnormalities associated with a particular disorder that may be passed on to children.

Our Carrier Screening Gene Tests are associated with heritable disorders including 32 core and 26 secondary conditions identified by American College of Medical Genetics (ACMG) and American Congress of Obstetricians and Gynecologists (ACOG), and recommended by US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children for screening.

Additional customized gene tests including clinical exome are available based on medical necessity.

GxVISION® Carrier Screening Test Options

The recommendation of The American College of Obstetricians and Gynecologists (ACOG) is that physicians discuss carrier screening options – including expanded carrier screening – with all women who are pregnant or considering pregnancy.

Greater than 99% sensitivity across all ethnicities
Reflex texting of biological father when mother tests positive.

Screens For up to 6 genes and 5 Conditions, 2 genes and 2 Conditions, or selected Conditions

Genes:

CFTR, DMD, HBA1, HBA2 , HBB, SMN1

Conditions:

Alpha-Thalessemia, Beta Hemoglobinopathies (Beta-Thalassemia and Sickle Cell), Cystic Fibrosis, Duchenne/Becker Muscular Dystrophy, Spinal Muscular Atrophy

Reporting:

Pathogenic SNP/Indel of All Genes Included
Likely Pathogenic SNP/Indel of All Genes Included
Deletion of SMN1 Exon 7 (Dosage Analysis of SMN1)
2 SMN1 copies carrying *3+80T>G variant
DMD Del/Dup
HBA1/2 Deletion of 2 or More Copies
HBB Deletion
CFTR Del/Dup
VUSs that could be pathogenic when in a particular phase
(All variants, including VUSs, Likely Benign, and Benign, are available upon request.)

Screens For up to 15 Genes and 14 Conditions

Genes:

ASPA, BLM, CFTR, DMD, FANCC, GBA, GJB2, HBA1, HBA2, HBB, HEXA, IKBKAP (ELP1), MCOLN1, SMPD1, SMN1

Conditions:

Alpha-Thalassemia, Beta Hemoglobinopathies (Beta-Thalassemia and Sickle Cell), Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Deafness, Duchenne/Becker Muscular Dystrophy, Familial Dysautonomia, Fanconi Anemia, Gaucher Disease, Mucolipidosis IV, Niemann-Pick Disease, Types A and B, Spinal Muscular Atrophy, Tay-Sachs Disease

Reporting:

Pathogenic SNP/Indel of All Genes Included
Likely Pathogenic SNP/Indel of All Genes Included
Deletion of SMN1 Exon 7 (Dosage Analysis of SMN1)
2 SMN1 copies carrying *3+80T>G variant (Ethnicity-based increased risk of being a silent SMA carrier)
DMD Del/Dup
Deletion of GJB2
Deletion of HEXA
Deletion of MCOLN1
HBA1/2 Deletion of 2 or More Copies
HBB Deletion
CFTR Del/Dup
VUSs that could be pathogenic when in a particular phase
(All variants, including VUSs, Likely Benign, and Benign, are available upon request.)

Screens For 113 Genes

Genes:

ABCA3, ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGA, AGXT, AHI1, AIRE, ALDOB, ALPL, ANO10, ARSA, ARX, ASL, ASPA, ATP7B, BBS1, BBS2, BCKDHB, BLM, BTD, CBS, CC2D2A, CCDC88C, CEP290, CFTR, CHRNE, CLCN1, CLRN1, CNGB3, COL7A1, CPT2, CYP11A1, CYP21A2, CYP27A1, CYP27B1, DHCR7, DHDDS, DLD, DMD, DYNC2H1, ERCC2, EVC2, F9, FAH, FANCC, FKRP, FKTN, FMO3, G6PC, G6PD, GAA, GALT, GBA, GBE1, GJB2, GJB6, GLA, GNPTAB, GRIP1, HBA1, HBA2, HBB, HEXA, HPS1, HPS3, IDUA, IKBKAP (ELP1), L1CAM, LRP2, MCCC2, MCOLN1, MCPH1, MID1, MLC1, MMACHC, MMUT (MUT), MVK, NAGA, NEB, NPHS1, NR0B1, OCA2, OTC, PAH, PCDH15, PKHD1, PLP1, PMM2, POLG, PRF1, RARS2, RNASEH2B, RPGR, RS1, SCO2, SLC19A3, SLC26A2, SLC26A4, SLC37A4, SLC6A8, SMN1, SMPD1, TF, TMEM216, TNXB, TYR, USH1b (Myo7a), USH1C, USH2A, XPC (RAD4), FMR1 (optional addition)

Conditions:

Surfactant metabolism dysfunction, pulmonary 3, Familial hyperinsulinism, diabetes mellitus neonatal 3, (X-ALD) X-linked adrenoleukodystrophy, Adrenomyeloneuropathy, Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, Beta-ketothiolase deficiency (βKT), Aspartylglucosaminuria, Primary hyperoxaluria, type I, Joubert syndrome 3, Autoimmine polyendrocrinopathy syndrome type I, Hereditary fructosuria, Hypophosphaptasia (adult; childhood and infantile), Spinocerebellar ataxia 10, Metachromatic leukodystrophy, Developmental and epileptic encephalopathy 1 (DEE1), Argininosuccinic aciduria (ASA), Canavan disease, Wilson Disease, Bardet-Biedl s yndrome 1, Bardet-Biedl Syndrome 2, retinitis pigmentosa 74, Maple Syrup Urine Disease (MSUD) Type 1B, Bloom syndrome, Biotinidase deficiency (BIOT), Homocystinuria, B6 (HCY), Joubert syndrome 9; Meckel syndrome 6, Congenital hydrocephalus 1, Joubert syndrome 5; Leber congenital amaurosis 10, Cystic fibrosis (CF), Myasthenic syndrome, congenital (4A, slow-channel; and 4B fast-channel), Congenital myotonia, autosomal recessive form, Usher syndrome 3A, Achromatopsia 3, Recessive dystrophic epidermolysis bullosa, Carnitine palmitoyltransferase II deficiency (CPT II), Adrenal insufficiency, congenital, with 46 XY sex reversal (partial or complete), 21-hydroxylase deficiency (CAH), Cererbrotendinous xanthomatosis, Vitamin D-dependent rickets, type 1, Smith-Lemli-Opitz Syndrome, Retinitis pigmentosa, autosomal recessive, congenital disorder of glycosylation type 1, Maple Syrup Urine Disease (MSUD) Type III, Duchenne/Becker Muscular Dystrophy, Short-rib thoracic dysplasia 3 with or without polydactyly, Cerebrooculofacioskeletal syndrome 2; Tricothiodystrophy 1, photosensetive, Chondroectodermal dysplasia, Hemophilia B (HEMB), Tyrosinemia (TYR I), Fanconi Anemia, Muscular dystrophy-dystroglycanopathy, type A, 5 and type B,5, Fukuyama congenital muscular dystrophy,

Trimethylaminuria, Glycogen storage disease, type Ia (GSDIa), Glucose-6-phosphate dehydrogenase deficiency, Pompe disease, glycogen storage disease type II, Galactosemia, type I, Gaucher disease, types I and II, Glycogen storage disease, type IV; GBE1-related disorders, Nonsyndromic hearing Loss, recessive 1a, Nonsyndromic hearing loss, Fabry disease, Mucolipidosis type II alpha/beta, and type III alpha/beta, Fraser syndrome, Alpha thalassemia, Alpha thalassemia, Beta thalassemia, sickle cell disease, Tay-Sachs disease, Hermansky Pudlak syndrome 1, Hermansky Pudlak syndrome 3, Mucopolysaccharidosis Type Ih, Ih/s (Hurler), Familial dysautonomia, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS), Donnai-Barrow syndrome, 3-methylcrotonyl-CoA carboxylase 2 deficiency (3MCC), Mucolipidosis type IV, Primary microcephaly 1, recessive, Opitz GBBB syndrome, type 1 (GBBB1), Megalenchepalic leukoencephalopathy with subcortical cysts, Methylmalonic acidemia (cblC) with homocystinuria, Methylmalonic aciduria-methylmalonyl-CoA mutase deficiency, Hyper-IgD syndrome; Mevalonic aciduria, Schindler disease, type 1 and type 3, Nemaline Myopathy 2, Congenital nephrotic syndrome, Adrenal hypoplasia, congenital (AHC), Oculocutaneous albinism, brown and type II, Ornithine transcarbamylase deficiency, Phenylketonuria (PKU), Usher syndrome 1F, deafness autosomal recessive 23, Autosomal recessive polycystic kidney disease, Spastic paraplegia 2, X-linked (SPG2), Congenital disorder of glycosylation type Ia, Mitochondrial DNA depletion syndrome 4A and 4B, Hemophagocytic lymphohistiocytosis, familial, 2, Pontocerebellar hypoplasia type 6, Aicardi Goutieres syndrome 2, Retinitis pigmentosa 3 (RP3; RP); RP X-linked and sinorespiratory infections +/- deafness; Macular degeneration, X-inked atrophic, Retinoschisis 1, X-linked, juvenile (RS1), Mitochondrial complet IV deficiency, nuclear type 2, Basal ganglia disease, biotin-responsive, Epiphyseal dysplasia, mulitple 4; Achondrogenesis 1b, Pendred Syndrome, Glycogen storage disease 1b and 1c, Cerebral creatine deficiency syndrome 1 (CCDS1), Spinal Muscular Atrophy, Niemann-Pick disease (Type A & B), Atransferrinemia, “Joubert syndrome 2,, Meckel syndrome 2”, Ehlers-Danlos like syndrome due to tenascin-X deficiency, Oculocutaneous albinism type 1A and 1B, Usher syndrome, nonsyndromic hearing loss, Usher Syndrome, Usher syndrome, type 2A, Xeroderma pigmentosum, Fragile X Syndrome (FXS) (optional addition)

Reporting:

Reporting for SNP/Indel of all genes, Dosage of SMN1, 2 SMN1 copies carrying *3+80T>G variant (Ethnicity-based increased risk of being a silent SMA carrier), DMD Del/Dup, HBA1/2 Deletion of 2 or more copies, deletion of GJB2, deletion of HEXA, deletion of MCOLN1

Otogenetics offers genetic testing for other conditions based on medical necessity.

Examples of customized genes:

FMR1 CGG trinucleotide repeats

Exome

Corresponding conditions:

Fragile X

Factor V deficiency

Selected conditions

GxVISION® Carrier Screening Gene Selection Criteria

Conditions Included In Our Expanded Carrier Screening Meet The Following Criteria:

Carrier frequency of one in 100 or greater for autosomal recessive genes
1/40,000 or greater disease prevalence for X-linked gene inclusion
Well-defined phenotype
Have detrimental effect on quality of life
Cause cognitive or physical impairment,
Require surgical or medical intervention
Have an onset early in life
Diagnosed prenatally
Potential opportunities for antenatal intervention to improve perinatal outcomes
Changes to delivery management to optimize newborn and infant outcomes
Parental education about special care needs after birth

FAQ’s Billing & Insurance FAQs

Every patient should have access to highly accurate and affordable genetic testing. Otogenetics is committed to work with each patient to reach payment solutions. These may include:

Working with your insurance provider to verify coverage.
Flexible payment options billed over several months.
Financial assistance for patients who qualify.

We encourage patients to call us for all billing questions, and to discuss payment solutions.

Please call us toll free at 1-855-686-4363, option 1.

Otogenetics is committed to working with patients to ensure that everyone has access to testing without financial burden.

Medicaid patients will NOT have patient out of pocket responsibility.
We treat all out-of-network claims as if they are in-network.
We will work with all insurers (primary and secondary policies) to maximize your qualified coverage.

Otogenetics testing service is covered by many insurance plans, the exact amount your patients owe may vary based on their individual plan and financial situation.

Here is our commitment to your patients regarding costs:

We will reach out to your patient if we estimate their cost could be more than $50 (the average out of pocket Otogenetics patients pay).
We will discuss the estimate with your patients, and review their affordability.

Your patient may receive information from their insurer, known as an Explanation of Benefits (EOB), regarding the test they received from Otogenetics.

An EOB from your patient’s insurer is NOT A BILL.

A bill for the test(s) provided by Otogenetics comes ONLY from Otogenetics.

If there is any patient out of pocket cost after Otogenetics has exhausted all options for reimbursement coverage and financial assistance, Otogenetics will reach out to your patient.