Molecular Genetics Laboratory
Our Laboratory
Presently, there are more than three thousand known genetic diseases. DNA analysis has provided geneticists and their colleagues with a new means of identifying many genetic disorders that impact the lives of thousands of families every year. DNA analysis has become an invaluable tool for the diagnosis of individuals affected with certain genetic disorders, as well as for carrier testing, presymptomatic diagnosis, and prenatal diagnosis.
Cancer Genetics Testing
Genetics Center’s genetic counselors can provide you with a personalized cancer genetic risk assessment. Appropriate genetic testing can be conducted through our in-house CAP accredited, CLIA certified, and Children’s Oncology Group (COG) approved laboratory. Counseling gives you the opportunity to discuss your family history and have a genetic counselor review and assess your hereditary cancer risks. From there, genetic counselors can help you decide if genetic testing is the best option for you and your family.
- Individual with suspected hereditary cancer syndrome or positive family history
- Individual with a bilateral or multifocal cancer
- Identification of at-risk family members
Testing is performed by Next Generation Sequencing and Deletion/Duplication Analysis. Certain results may be verified by other molecular methods.
Our molecular genetic cancer tests typically have a turn-around time of 8 days or less.
For Saliva Samples: Please contact us for a collection kit.
For Blood Samples: A single tube with 1-5 mL whole blood in EDTA (lavender top).
Send to:
211 S. Main Street
Suite AA
Orange, CA 92868
Tel: (714)288-3500
Genetics Center’s Cancer Panel can test for any of the following conditions:
- Ataxia Telangiectasia (ATM)
- Bannayan-Riley-Ruvalcaba syndrome (PTEN)
- Birt-Hogg-Dube syndrome (FLCN)
- Bloom syndrome (BLM)
- CHEK2-related cancer (CHEK2)
- Cowden syndrome (PTEN)
- Comprehensive Breast Cancer Panel
- ATM, BRCA1, BRCA2, BRIP1, CDH1. CHEK2, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
- Comprehensive Ovarian Cancer Panel
- ATM, BRCA1, BRCA2, BRIP1, CHEK2, MUTYH, MLH1, MSH2, MSH6, PALB2,PMS2,RAD51C, STK11, TP53, EPCAM (del/dup only)
- Comprehensive Colon Cancer Panel
- Includes Lynch syndrome genes and, APC, MUTYH, PTEN, SMAD4, BMPR1A, STK11, TP53
- Congenital Central Hypoventilation syndrome (PHOX2B)
- Costello syndrome (HRAS)
- Denys-Drash syndrome (WT1)
- Familial adenomatous polyposis (APC)
- Familial cutaneous malignant melanoma (CDH1)
- Familial Medullary Thyroid Carcinoma (RET)
- Fanconi Anemia (contact us for complementation group list)
- Fumarate hydratase deficiency (FH)
- Gardner syndrome (APC)
- Gorlin syndrome (PTCH1)
- Hereditary Breast and Ovarian Cancer Syndrome (BRCA1,BRCA2)
- Hereditary diffuse gastric cancer (CDH1)
- JAK2-related disorders (JAK2)
- Juvenile Polyposis syndrome (BMPR1A, SMAD4)
- Li-Fraumeni syndrome (TP53)
- Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM and MUTYH)
- Multiple Endocrine Neoplasia, Type 1 (MEN1)
- Multiple Endocrine Neoplasia, Types 2A & 2B (RET)
- Neurofibromatosis, Type 2 (NF2)
- Nijmegen Breakage Syndrome (NBN)
- PALB2-related cancer (PALB2)
- Peutz-Jeghers syndrome (STK11)
- PTEN Hamartoma Tumor Syndrome (PTEN)
- Polyposis Syndrome Comprehensive Panel (APC, MUTYH)
- Includes FAP, Gardner syndrome, Turcot syndrome and attenuated FAP
- Schwachman-Diamond syndrome (SBDS)
- Schwannomatosis (SMARCB1)
- Simpson-Golabi-Behmel syndrome (GPC3)
- Sotos syndrome (NSD1)
- Tuberous sclerosis (TSC1 & TSC2)
- Turcot syndrome (APC)
- Von Hippel Lindau (VHL)
- Werner syndrome (WRN)
- Wilms tumor (WT1)
Array-Based Comparative Genomic Hybridization
Genetics Center’s on-site laboratory offers the latest in array-based comparative genomic hybridization (180K Array CGH) testing as well as DNA analysis for some of the more common hereditary disorders, including cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and hereditary hemochromatosis. It also performs bone marrow transplant monitoring and BCR-ABL testing for hematological malignancy. Additional DNA-based tests are also available. DNA analysis can be performed on any number of tissues such as blood, skin, cultured amniotic fluid, or chorionic villi.
Postnatal Abnormalities (Pediatric and Adult):
The American College of Medical Genetics (ACMG) has recommended the use of array CGH as a first-tier test in the initial postnatal evaluation of an individual with developmental delay/intellectual disability, autism spectrum disorder, or multiple congenital anomalies that are not part of a recognizable syndrome.
Further clarification of a chromosome rearrangement or abnormality initially detected by conventional chromosome analysis.
Retesting at Higher Resolution:
Previously performed lower-resolution microarray studies with normal results may be considered to be retested at the higher 180k resolution.
Prenatal Abnormalities:
Please see our GCPrenatal Array for further information
Products of Conception (POC):
Please see our GCPrenatal Array for further information
An array chip is a slide with thousands of DNA probes that are specific to regions of our chromosomes. The probes in the array were specifically selected to identify well-known imbalances in chromosomes and to evenly cover the entire genome as well.
Abnormalities Detected by Array CGH include:
- Well-known microdeletion and duplication syndromes, such as Williams syndrome, 22q11.2 deletion syndrome, Prader-Willi syndrome, Angelman syndrome, and many others.
- Chromosomal aneuploidies, such as Down syndrome, trisomy 18, and many others.
- Gains or losses at the ends of chromosomes.
- Gains or losses in certain genomic regions known to be associated with autism.
- Other copy number variations of unclear clinical significance may be also detected via this testing modality.
Our Array-Based comparative genomic hybridization testing have a turn-around of less than 10 days.
- Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).
- Saliva: Please contact us for collection kit.
Send to:
211 S. Main Street
Suite AA
Orange, CA 92868
Tel: (714)288-3500
Paternity and Identity Testing
Genetics Center offers a variety of paternity/identity testing options to fit your needs with high accuracy, high quality (performed at our CLIA certified and CAP accredited laboratory), ease of specimen collection, and reasonable cost. This testing is DNA-based and can exclude an alleged father with 100% certainty or include an alleged father with greater than 99.9% accuracy.
Genetics Center now offers a quick and painless cheek cell collection method, called a buccal swab. The swab is used to obtain buccal (cheek) cells from which DNA can be extracted. To collect the cells, the swab is gently rubbed on the inner cheek inside the mouth. Buccal cells should be collected from the child, the alleged father, and the mother for the most accurate results. Cheek swabs are non-invasive and can be performed in office or from the convenience of your own home.
Genetics Center offers a legal paternity testing option with the required chain of custody documentation for evidence in a court of law.
Paternity testing can also be performed prenatally using direct DNA extraction from amniotic fluid or using cultured amniotic cells or chorionic villi.
Testing can be performed on quick and painless cheek swabs or also performed on blood samples from the mother, child, and alleged father. All specimen types provide the same degree of accuracy.
DNA Analysis Tests
Additional DNA-based tests are also available. DNA analysis can be performed on any number of tissues such as blood, skin, amniotic fluid, or chorionic villi.
DNA analysis is extremely accurate. However, there are limitations to what information can be obtained by this type of testing. For this reason, genetic counseling is strongly recommended before proceeding with DNA analysis.
DNA analysis is generally not used as the sole means of diagnosis, but rather as part of a comprehensive genetics evaluation when a particular disorder is suspected. If you have questions regarding DNA analysis or other genetics services, please do not hesitate to contact us.
What we Test For
DNA analysis is extremely accurate. However, there are limitations to what information can be obtained by this type of testing. For this reason, genetic counseling is strongly recommended before proceeding with DNA analysis.
Genetics Center’s on-site laboratory offers the latest in array-based comparative genomic hybridization (180k array CGH) testing as well as DNA analysis for some of the more common hereditary disorders, including cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and hereditary hemochromatosis. It also performs bone marrow transplant monitoring and BCR-ABL testing for hematological malignancy. Additional DNA-based tests are also available. DNA analysis can be performed on any number of tissues such as blood, skin, cultured amniotic fluid, or chorionic villi.