Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS)

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

• Baraitser-Winter Syndrome
• Capillary Malformation-Arteriovenous Malformation syndrome (CV-AVM)
• Cardio-Facio-Cutaneous Syndrome
• Costello Syndrome
• Genitopatellar syndrome
• Legius Syndrome
• Noonan Syndrome
• Noonan syndrome with multiple lentigines
• Noonan-Like Syndrome
• Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS)

• Diagnosis in a patient based on clinical diagnosis
• Diagnosis for known familial pathogenic variant(s)
• Distinguish between causes and forms of RASopathies and disorders with phenotypically similar clinical presentations
• Genetic counseling, especially regarding recurrence risk

• Next-Gen Sequencing
• Deletion/Duplication Analysis

TA06

4 weeks

2-5 mL Blood - Lavender Top Tube

Oral Rinse (30-40 mL) | Buccal Swabs | Extracted DNA

81442x1

Yes

Yes