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Genetics Center Test Menu

Our Testing Services

Molecular Test Menu⯆
  • AD Polycystic Kidney Disease (PKD1, PKD2)
  • Alport syndrome (COL4A3, COL4A4, COL4A5)
  • Aortopathy Panel (ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, GLI3, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2)
  • Array CGH (Microarray)
  • Ataxia Telangiectasia (ATM)
  • Bannayan-Riley Ruvalcaba syndrome (PTEN)
  • Birt-Hogg-Dube syndrome (FLCN)
  • BRCA 1/2 Testing
  • Carney Complex (PRKAR1A)
  • Congenital Central Hypoventilation syndrome (PHOX2B)
  • Congenital Contractural Arachnodactyly (FBN2)
  • Connexin 26 (GJB2) Sequence Analysis
  • Connexin 26 (GJB2) Targeted Mutation Analysis
  • Connexin 30 (GJB6) Targeted Mutation Analysis
  • Costello syndrome (HRAS)
  • Craniosynostosis Syndrome Comprehensive Testing
    • Apert syndrome
    • Comprehensive Craniosynostosis Panel (FGFR1, FGFR2, FGFR3, TWIST1)
    • Crouzon syndrome
    • Crouzon syndrome with Acanthosis Nigricans
    • FGFR1 Mutation Testing
    • FGFR2 Mutation Testing
    • FGFR3 Mutation Testing
    • Muenke syndrome
    • Non-Syndromic Craniosynostosis
    • Pfeiffer syndrome
    • Saethre-Chotzen syndrome
    • Testing for a Known Familial Mutation in FGFR1, FGFR2, FGFR3 or TWIST genes
  • Mitochondrial Hearing Loss Sequencing (MT-RNR1 and MT-TS1 genes)
  • MTHFR
  • Multiple Endocrine Neoplasia, Type 1 (MEN1)
  • Multiple Endocrine Neoplasia, Types 2a & 2B (RET)
  • Myotonic Dystrophy
  • Neurofibromatosis, Type 1 (NF1)
  • Neurofibromatosis, Type 2 (NF2)
  • Nevoid Basal Cell Carcinoma syndrome (Gorlin syndrome) (PTCH1, SUFU)
  • Non-Syndromic Hearing Loss:
    • Comprehensive Non-Syndrome Hearing Loss Panel
    • Connexin 26 Sequence Analysis
    • Connexin 26 Targeted Mutation Analysis
    • Connexin 30 Targeted Mutation Analysis
    • Mitochondrial Hearing Loss Sequencing
  • Noonan Panel (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1,R1T1, SHOC2, SOS1, SOS2)
  • Osteogenesis Imperfecta (OI) (COL1A1, COL1A2)
  • Pallister-Hall syndrome (GLI3)
  • Pancreatitis Panel (CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1)
  • Paternity / Identity Testing
  • Peutz-Jeghers syndrome (STK11)
  • Pheochromocytoma/Paraganglioma syndrome (MAX, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
  • Proteus syndrome (PTEN)
  • RASA1-related disorder (RASA1)
  • Rasopathy Panel (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, SPRED1)
  • Retinoblastoma (RB1)
  • Rett Syndrome (MECP2)
  • TPMT Mutation Analysis
  • Tuberous Sclerosis (TSC1 & TSC2)
  • Von Hippel-Lindau (VHL)
  • Wilms Tumor (WT1)

Cytogenetic Diagnostic Test Menu⯆
  • Amniotic Fluid and Chorionic Villi Cytogenetic Analysis
  • Chromosome breakage studies for Fanconi Anemia
  • Fluorescence In Situ Hybridization (FISH) Analysis
  • Neoplastic Cytogenetics
  • Peripheral Blood Cytogenetic Analysis
  • Products of Conception
  • Skin and Other Tissue for Cytogenic Analysis
  • Tumor and Solid Tissue Cytogenetic Analysis

Prenatal Diagnostics⯆

General Specimen Requirements⯆

Specimen Type

Test Requested

Collection Protocol

Amniotic Fluid

Routine Cytogenetics, DNA Analysis, FISH Studies

Amniotic fluid specimens (approx. 20cc) should be collected and put in sterile culture tubes. Label the tubes with the patient’s name and the date the specimen was drawn. Cover the tubes with aluminum foil or a paper towel to prevent light from reaching the fluid. Keep the specimen at room temperature.

Blood

Routine Cytogenetics

Blood specimens (2-3cc with minimum 1cc) should be collected in green top sodium heparin vacutainer tubes. Label the specimen with the patient’s name and the date and time that the specimen was drawn. The specimen should be kept at room temperature.

DNA Analysis

Collect (3-5cc with minimum 2cc) of peripheral blood in an EDTA (lavender top) tube. Label specimen with patient’s name and time of collection. Store the sample at room temperature if held for less than 12 hours. If the sample is held for longer than 12 hours, it should be

refrigerated.

Microarray (Array CGH)

Postnatal:

Two EDTA (lavender top) tubes with 3-5cc with minimum 2cc blood per tube (one tube for infants and children) and One sodium heparin (green top) vacutainer tube with 3cc with minimum 1cc blood (one cc for infants and children)

For Prenatal Microarray or on Products of Conception (POC), please call.

FISH

Blood specimens (2-3cc with minimum 1cc) should be collected in green top sodium heparin vacutainer tubes. Label the specimen with the patient’s name and the date and time that the specimen was drawn. The specimen should be kept at room temperature.

Breakage Studies

Blood specimens (4cc with minimum 3cc) should be collected in green top sodium heparin vacutainer tubes. Label the specimen with the patient’s name and the date and time that the specimen was drawn. The specimen should be kept at room temperature.

Bone Marrow

Routine Cytogenetics Analysis

Bone marrow specimens (2-4cc with minimum 2cc) should be collected in bone marrow transport tubes (provided by Genetics Center) or in green top sodium heparin vacutainer tubes. Label specimen with the patient’s name and the date and time the specimen was drawn. Bone marrow must be processed immediately after obtaining it. Notify the Genetics Center prior to doing the collection so that preparations and immediate pick up of the specimen can be arranged. If a bone marrow tap is unsuccessful, a peripheral blood sample can be drawn. This blood will be treated as a bone marrow (i.e. unstimulated cultures) so that an abnormal cell line, if

present, can be investigated.

Tissues

Routine Cytogenetics

Tissue specimens should be transferred to sterile containers containing sterile tissue culture media (provided by the Genetics Center) or put into a sterile container with sterile saline solution. Keep the specimen at room temperature.

Products of Conception (POC)

Routine Cytogenetics

POC specimens should be transferred to sterile containers containing sterile tissue culture media (provided by the Genetics Center) or put into a sterile container with sterile saline solution. An ideal specimen would contain villi and membrane or umbilical cord samples as well as fetal skin samples; however, any fetal tissue sample can be cultured. Keep the specimen at room temperature.

Specimen Pickup

For coordination of specimen pick-up and for further information, please contact Genetics Center: 714-288-3500 or Toll Free: (888) 4-GENETIC

Quality Assurance

Genetics Center is focused in providing services relating to human genetics. Our executive team is comprised of several physicians with ABMG board certifications in Clinical Genetics, Clinical Molecular Genetics, and Clinical Cytogenetics; PhD Scientists, CLS Certified Laboratory Technicians and Genetic Counselors. Genetics Center has been in operation since 1986 in Orange County located in southern California. We offer comprehensive clinical and laboratory services. Genetics Center is certified by the U.S. Department of Health & Human Services, is licensed by the State of California Department of Public Health as a clinical laboratory, and is CLIA and CAP accredited. We are approved by the California State Genetic Disease Branch as a comprehensive prenatal diagnosis center (PDC) and contracted for California Prenatal Screening Program follow-up services. Genetics Center has a training program that is approved by the California Department of Health Services Laboratory Field Services to train Clinical Cytogeneticist Scientists for State licensure and accredited to provide Continuing Education acceptable for that State license. We are also Children’s Oncology Group (COG) approved.


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