HYLS1 Gene Hydrolethalus Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hydrolethalus Syndrome
The HYLS1 Gene Hydrolethalus Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool in medical genetics, specifically designed to identify mutations in the HYLS1 gene that cause hydrolethalus syndrome. This rare autosomal recessive disorder is characterized by severe developmental abnormalities, primarily affecting brain and limb development during fetal growth. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations, offering families and healthcare providers critical information for diagnosis and management.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the HYLS1 gene, which encodes a protein essential for proper ciliary function and embryonic development. The test detects:
- Pathogenic mutations in the HYLS1 gene associated with hydrolethalus syndrome
- Single nucleotide variants (SNVs) and small insertions/deletions
- Compound heterozygous mutations in affected individuals
- Carrier status in asymptomatic family members
- Specific genetic variants that disrupt normal ciliary function
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals and families experiencing:
- Pregnancies with ultrasound findings of hydrocephalus and polydactyly
- Family history of hydrolethalus syndrome or similar congenital anomalies
- Previous pregnancies affected by severe fetal abnormalities
- Consanguineous relationships where both partners may carry HYLS1 mutations
- Unexplained recurrent pregnancy losses with fetal anomalies
- Infants born with characteristic features including hydrocephalus, cleft palate, and limb abnormalities
Clinical Symptoms and Indications
Hydrolethalus syndrome typically presents with distinctive clinical features that may indicate the need for genetic testing:
- Severe hydrocephalus with midline brain defects
- Postaxial polydactyly in hands and/or feet
- Cleft lip and palate abnormalities
- Cardiac malformations and respiratory issues
- Micrognathia and other facial dysmorphisms
- Neural tube defects and cerebellar abnormalities
Benefits of HYLS1 Genetic Testing
Accurate Diagnosis and Prognostic Information
Receiving a definitive genetic diagnosis provides numerous clinical benefits:
- Confirms clinical suspicion of hydrolethalus syndrome with molecular evidence
- Enables appropriate medical management and palliative care planning
- Provides recurrence risk information for future pregnancies
- Facilitates genetic counseling for affected families
- Helps distinguish from other similar genetic syndromes
- Supports informed decision-making regarding pregnancy management
Family Planning and Carrier Screening
The test offers valuable insights for reproductive planning:
- Identifies carrier status in unaffected family members
- Enables preimplantation genetic diagnosis (PGD) options
- Provides information for prenatal testing in subsequent pregnancies
- Helps assess recurrence risks for extended family members
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Detection of pathogenic mutations confirms diagnosis of hydrolethalus syndrome
- Carrier Status: Identification of a single mutation indicates carrier status with 25% risk of affected offspring when both parents are carriers
- Negative Result: No mutations detected reduces likelihood of HYLS1-related hydrolethalus syndrome
- Variant of Uncertain Significance: Rare genetic changes requiring further clinical correlation
Clinical Implications
Positive results should be discussed with a genetic counselor to understand:
- Specific mutation characteristics and inheritance patterns
- Clinical management recommendations
- Reproductive options and family planning considerations
- Support resources and specialized care facilities
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | HYLS1 Gene Hydrolethalus Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar conditions
- Review of previous imaging studies and clinical findings
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our HYLS1 Gene Hydrolethalus Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our advanced NGS technology and expert genetic analysis, you can trust the accuracy and reliability of your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Take control of your genetic health with comprehensive testing from General Genetics Corporation – your trusted partner in advanced genetic diagnostics.
