Genetic Testing for Malformations

Genetic Testing for Malformations: Early Detection & Personalized Care

Understand the Genetic Causes of Structural Abnormalities

Congenital malformations, also known as congenital disabilities, can affect various organs and body systems. Many of these conditions have a genetic basis, and identifying the underlying cause can provide crucial insights for early intervention, treatment, and family planning. Genetic testing for malformations helps detect inherited or spontaneous mutations responsible for structural abnormalities, allowing personalized care and better health outcomes.

Why choose genetic testing for malformations?

  • Early Detection: Identify genetic causes of malformations during pregnancy or after birth.
  • Personalized Care Plans: Tailored treatments and interventions based on genetic findings.
  • Family Health Insights: Understand hereditary risks and guide family planning decisions.
  • Improved Outcomes: Early intervention and targeted care for better long-term health.

Who Should Consider Genetic Testing for Malformations?

  • Infants and children with unexplained congenital disabilities or structural abnormalities.
  • Individuals with a family history of congenital malformations.
  • Parents planning a pregnancy with concerns about genetic inheritance.
  • Patients with multiple congenital anomalies or syndromic features.
  • Those diagnosed with skeletal, heart, or neurological malformations.

Common Malformations We Screen For

  • 3-M Syndrome / Primordial Dwarfism Panel
  • Adams-Oliver Syndrome Panel
  • Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel
  • Arthrogryposes Panel
  • Brachydactyly / Syndactyly Panel
  • Cerebral Cavernous Malformation Panel
  • Chondrodysplasia Punctata Panel
  • Cleft Lip/Palate and Associated Syndromes Panel
  • Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel
  • Comprehensive Short Stature Syndrome Panel
  • Comprehensive Skeletal Dysplasias and Disorders Panel
  • Cornelia de Lange Syndrome Panel
  • Craniosynostosis Panel
  • Exostosis and Related Disorders Panel
  • Facial Dysostosis and Related Disorders Panel
  • Gastrointestinal Atresia Panel
  • Heterotaxy and Situs Inversus Panel
  • Hirschsprung Disease Panel
  • Holoprosencephaly Panel
  • Kabuki Syndrome Panel
  • Limb Malformations Panel
  • Lissencephaly Panel
  • Lymphatic Malformations and Related Disorders Panel
  • Macrocephaly / Overgrowth Syndrome Panel
  • Meier-Gorlin Syndrome Panel
  • Metaphyseal Dysplasia Panel
  • Microcephaly and Pontocerebellar Hypoplasia Panel
  • Micromelic Dysplasia Panel
  • Neurofibromatosis Panel
  • Neuronal Migration Disorder Panel
  • Osteogenesis Imperfecta Panel
  • Osteopetrosis and Dense Bone Dysplasia Panel
  • Polymicrogyria Panel
  • Seckel Syndrome Panel
  • Septo-Optic Dysplasia Panel
  • Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel
  • Skeletal Dysplasia with Abnormal Mineralization Panel
  • Skeletal Dysplasias Core Panel
  • Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel
  • Vascular Malformations Panel

Comprehensive Genes List

A4GALT, A4GNT, AAAS, AADAC, AADACL2, AAGAB, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCA10, ABCA12, ABCA13, ABCA2, ABCA3, ABCA4, ABCA5, ABCA7, ABCB1, ABCB11, ABCB4, ABCB5, ABCB6, ABCB7, ABCC1, ABCC11, ABCC12, ABCC2, ABCC3, ABCC4, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABCG1, ABCG2, ABCG5, ABCG8, ABHD1, ABHD12, ABHD5, ABI3BP, ABL1, ABL2, ABO, ABRAXAS1, ACACA, ACACB, ACAD10, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACBD5, ACBD6, ACCS, ACE, ACHE, ACKR1, ACKR3, ACLY, ACMSD, ACO2, ACOX1, ACP1, ACP2, ACP5, ACP6,

How It Works?

  1. Consultation: Discuss your medical history, concerns, and goals with a genetic specialist.
  2. Sample Collection: Provide a simple saliva, blood, or tissue sample for DNA analysis.
  3. Advanced Genetic Analysis: State-of-the-art testing detects genetic mutations linked to malformations.
  4. Personalized Report: Receive a detailed, easy-to-understand report with actionable insights.
  5. Expert Guidance: Work with genetic counselors and specialists to interpret results and plan next steps.

Why Choose Us?

  • Cutting-Edge Technology: Advanced genetic sequencing for precise and reliable results.
  • Expert Team: Board-certified geneticists and specialists guiding you every step of the way.
  • Privacy Assurance: Your genetic data is protected with strict confidentiality policies.
  • Compassionate Care: Dedicated to your comfort, well-being, and long-term health.