New Tests Available:

• New Reflex Policy for 6017 - CFTR 5T Variant Analysis with 5T/TG Haplotyping
• 3760 - Combined Oxidative Phosphorylation Deficiency, MRPS16 Related Sequence Analysis
• 6395 - Nonsyndromic Hearing Loss | Usher Syndrome 1B, MYO7A Sequence Analysis
• 3665 - Multiple Endocrine Neoplasia Type 1, MEN1 Sequence Analysis
• Rubinstein-Taybi Syndrome
  6758 - CREBBP Sequence & Deletion/Duplication Analysis
  6755 - CREBBP Sequencing only
  6665 - CREBBP Deletion/Duplication by MLPA
• 3250 - Nuclear Encoded Complex I Deficiency, NDUFS5 Sequence Analysis
• 3260 - Nuclear Encoded Complex I Deficiency, NDUFA7 Sequence Analysis
• 3775 - Coenzyme Q10 Deficiency, COQ9 Sequence Analysis

Updated Requisition Forms:

• Cancer DNA
• Molecular Diagnostic*
• Mitochondrial
• Prenatal

*Notice: The DNA Non-Sequencing and Gene Sequencing Requisition Forms have been combined into one new form: Molecular Diagnostic.

Discontinued Tests:

• 4540 - Maroteaux Lamy Disease (MPS VI), Arylsulfatase B Enzyme Analysis