Test Catalog

TEST CATALOG

ONCOLOGY 
Bone Marrow, Cancer Blood, Lymph Node, and Solid Tumor Tissue Specimens
Specimen Requirements and Turn-Around-Times: Hematology/Oncology/Lymphoma

• Chromosome Analysis: Cancer
• FISH: Cancer
      - Oncology FISH Probes/Panels List
• Microarray: Cancer
• Cell Culture, DNA extraction, and Cryopreservation 

POSTNATAL TESTING (Adult and Children)
Blood, Extracted DNA, and Skin Biopsy Specimens
Specimen Requirements and Turn-Around-Times: Postnatal

• Chromosome Analysis (High Resolution): Postnatal
• FISH: Postnatal
        - Aneuploidy (13, 18, 21, X, Y)
        - Targeted (i.e. 22q11.2)
• Fragile X testing - Targeted Mutation Analysis sent from HGL to the Molecular Diagnostic section of The Nebraska Medical Center Clinical Laboratories.
• Chromosome Breakage for Fanconi Anemia
• MECP2 del/dup (MLPA)
• Methylation Analysis: for Chromosome 14 [Temple syndrome (Prader-Willi-like), Paternal UPD14]
• Methylation Analysis: for Chromosome 15 [Prader-Willi syndrome, Angelman syndromes]
• Microarray: Postnatal High Density SNP
• DISCONTINUED - Microarray: 180K Exon
• DISCONTINUED - Microarray: UPD
• Molecular Test by Gene - UNDER CONSTRUCTION
• Next Generation Sequencing (NGS)
       - Autism/Intellectual Disability/Multiple Congenital Anomalies Panel
       - Rett/Atypical Rett/Angelman Panel
       - Noonan syndrome/RASopathy Disorders Panel
       - Craniosynostosis Panel
       - DMD Sequencing
       - Amyotrophic Lateral Sclerosis (ALS) Panel – COMING SOON!
       - Cardiomyopathy Panel – COMING SOON!
       - Connective Tissue Disorders Panel – COMING SOON!
• Comprehensive Microarray / Next Generation Sequencing
• Targeted Single Gene Sequencing (Sanger)
       - Neurofibromatosis Type 1: NF1/SPRED1
       - Tuberous Sclerosis: TSC1/TSC2
       - SHOX sequencing
• Cell Culture, DNA extraction, and Cryopreservation

PRENATAL DIAGNOSTIC TESTING
Amniotic Fluid, Chorionic Villi Sampling (CVS), Fetal Tissue, and Products of Conception (POC) Specimens
Specimen Requirements and Turn-Around-Times: Prenatal

• Chromosome Analysis: Prenatal
• FISH: Prenatal
  - Aneuploidy (13, 18, 21, X, Y)
  - Targeted (i.e. 22q11.2)
• Microarray: Prenatal
• Microarray: Pregnancy Loss
• Y-Chromosome Microdeletion (YCMD) for male infertility
• Cell Culture, DNA extraction, and Cryopreservation

PRENATAL SCREENING
Maternal Serum and Amniotic Fluid Specimens

• Quad Screen Risk Assessment or Maternal Serum Alphafetoprotein (MS-AFP) only
• AF-AFP & ACHE
• Preimplantation Genetic Screening (PGS)

 revised: 3-20-13