Whole Exome Sequencing (NGS)
Covers coding exons of all clinically actionable carrier genes for single-nucleotide variants and small indels.
Pre-Conception Carrier Screening
Evaluate the reproductive risk of severe inherited genetic conditions before pregnancy.
Максимально полный анализЭкзом, CNV 152 гена, кариотип, тандемные повторы, фармакогенетика и другие методы в одном комплексе — без «узких» панелей.
Для будущего ребёнкаОценка совместимости генотипов пары и риска для будущего ребёнка при аутосомно-рецессивных и X-сцепленных заболеваниях.
По стандартам ACMG 2024Подход к скринингу на носительство и интерпретации результатов согласован с актуальными лабораторными рекомендациями ACMG.
129 000 ₽
Why Pre-Conception Screening Matters
Every healthy individual carries on average 2–4 silent pathogenic mutations for severe recessive disorders. When both partners carry variants in the same gene, there is a 25% risk in each pregnancy of having an affected child.
Over 80% of children with genetic disorders are born to parents with no prior family history
Pre-conception identification unlocks proactive reproductive strategies (IVF with PGT-M, donor gametes, prenatal diagnosis)
Recommended by ACMG, ACOG, and ESHRE guidelines for all prospective parents
What We Analyze
Comprehensive multi-modal genomic investigation covering recessive and X-linked inherited conditions.
Exon-Level Chromosomal Microarray (CMA)
Detects deletions and duplications (CNVs) that cause microdeletion syndromes and monogenic gene knockouts.
Repeat Expansions & Complex Loci
Specialized molecular testing for Fragile X syndrome (FMR1 CGG repeats) and Spinal Muscular Atrophy (SMN1 copy number).
Features of the Omninome Clinical Report
High-Penetrance Inherited Conditions Screened
Neuromuscular & Neurodegenerative
150+ conditionsSpinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy, Tay-Sachs Disease
Metabolic & Biochemical
200+ conditionsPhenylketonuria (PKU), Gaucher Disease, Maple Syrup Urine Disease, Wilson Disease
Hematologic & Pulmonary
80+ conditionsCystic Fibrosis (CFTR), Alpha/Beta Thalassemia, Sickle Cell Disease
Immune, Renal & Sensorineural
100+ conditionsNon-syndromic hearing loss (GJB2), Polycystic Kidney Disease, Severe Combined Immunodeficiency (SCID)
Полный список генов и заболеваний
3600+Pricing & Packages
Carrier Screening — Individual
$1,290
- Whole Exome NGS, Exon-level CMA, Karyotyping
- Repeat expansion analysis (FMR1) & SMN1 copy number
- Clinical bioinformatics curation & report
- DNA cryopreservation in biobank
Most Popular
Carrier Screening — Couple
−15%$2,190
- Full individual screening for both partners
- Joint reproductive compatibility & risk calculation
- Turnaround time: 4–6 weeks
- DNA cryopreservation for both samples
Сроки и условия
Сроки получения результатов и тип образца
30-45
Days for comprehensive multi-platform analysis
- Multi-stage laboratory sequencing & quality control
- Email notifications at each milestone
- Encrypted digital report & clinical PDF
International Standards
ACMG & ACOG Clinical Guidelines
American College of Medical Genetics and Genomics recommendations for universal carrier screening.
ESHRE Quality Standards
European Society of Human Reproduction and Embryology recommendations for pre-conception genetics.
Who Benefits from Screening
Couples Planning Pregnancy
Prior to conception or early in pregnancy to ensure comprehensive knowledge of reproductive risks.
Assisted Reproduction & IVF
Couples preparing for IVF or intrauterine insemination to guide pre-implantation testing.
Family History of Congenital Illness
Known inherited conditions or unexplained neonatal complications in close relatives.
Couples Planning Pregnancy
Prior to conception or early in pregnancy to ensure comprehensive knowledge of reproductive risks.
Assisted Reproduction & IVF
Couples preparing for IVF or intrauterine insemination to guide pre-implantation testing.
Family History of Congenital Illness
Known inherited conditions or unexplained neonatal complications in close relatives.
Couples Planning Pregnancy
Prior to conception or early in pregnancy to ensure comprehensive knowledge of reproductive risks.
Assisted Reproduction & IVF
Couples preparing for IVF or intrauterine insemination to guide pre-implantation testing.
Family History of Congenital Illness
Known inherited conditions or unexplained neonatal complications in close relatives.
How the Test Works
1
Order Online
Select individual or couple package. We deliver collection kits directly to your doorstep.
2
Sample Collection
Collect painless saliva samples at home and return them via prepaid courier envelope.
3
Genomic Sequencing
High-throughput Whole Exome sequencing, CMA microarrays, and repeat analysis in our partner lab.
4
Couple Matching
Our bioinformatics engine matches partner variants to identify shared carrier conditions.
5
Clinical Report & Counseling
Access your secure results and review reproductive options with a clinical geneticist.
Sample Clinical Report
Review an example of our carrier screening report, couple compatibility matching, and reproductive risk assessment.
Genomics Explained in Clear, Actionable Terms
All your clinical test results are synthesized in one secure portal, while our AI assistant clarifies complex terminology and variant annotations — empowering you to collaborate effectively with your healthcare providers.
1
Client Portal
All reports and genomic findings in a single dashboard: actionable health priorities and full variant details.
2
AI Genetic Assistant Nome
Context-aware answers tailored to your genomic data: clear clinical explanations and key questions for your physician.
3
Interactive Reports Beyond Static PDFs
Engage dynamically with your findings: filter by clinical relevance, navigate risk profiles, and prepare for doctor visits.
Часто задаваемые вопросы
Frequently asked questions regarding family planning and carrier screening
Ready to plan for a healthy family?
Order your carrier screening kit today and receive complete reproductive genomic clarity.
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