Unlocking the doors of genetic disease

Better Patient Care Through Genetic Testing

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LabCorp proudly offers the convenience and simplicity of fulfilling all your clinical laboratory needsfrom cuttingedge genetic testing services to the monitoring of everyday routine procedures. Wouldnt it make your patient care easier to send all your specimens to one full-service lab? Were anxious to acquaint you with our broadgenetic test menu and share the LabCorp advantage. The LabCorp Advantage

Board-certified genetic counselors and geneticists to assist in the interpretation of results or to recommend follow-up testing

Abnormal results communicated by telephone

Specialized genetics customer service staff

Direct toll-free telephone line to genetics services

Patient education brochures and videotapes (in English and Spanish)

Reader-friendly reports

Specimen transport kits available at no additional charge

Courier system for pick-up of samples from your office

The LabCorp name is synonymous with diagnostic testing. As one of the largest clinical laboratory networks in the US, LabCorp is known from coast to coast as the leader in

accessibility and convenience

uncompromising accuracy

dependable customer service At its Center for Molecular Biology and Pathology (CMBP), LabCorp has developed a state-of-the-art multidisciplinary genetics facility to bring you the latest in

biochemical genetics

molecular genetics

cytogenetics (chromosome analysis)

Professional Staff

The cumulative expertise of the genetics professionals at the Center for Molecular Biology and Pathology includes

A highly qualified group of MDs and PhDs

Genetic counselors who are certified by the American Board of Genetic Counseling

Cytogeneticists and molecular and biochemical geneticists who are certified by the American Board of Medical Genetics

Biochemical Genetics

Biochemical genetic tests analyze specific proteins that are associated with inherited

disease. The levels of these proteins can directly identify a particular disorder or indicate whether an individual is a carrier. Other proteins are measured prenatally to identify higher risk pregnancies that would benefit from diagnostic testing, such as chromosome analysis.

Maternal Serum Screening

Maternal serum screening can identify pregnant women who are at an increased risk for having a baby with certain birth defects. Patient-specific risks for open spina bifida, Down syndrome, and trisomy 18 (Edwards syndrome) can be determined by measuring the levels of certain proteins in maternal serum and combining that data with the patients maternal age and clinical information. You may choose any of the following convenient combinations for maternal serum screening.

Maternal Serum AFP

Detects at least 80% of fetal open neural tube defects1

Measures the level of AFP (alpha-fetoprotein)

AFP X-tra

Detects at least 80% of fetal open neural tube defects and at least 60% of fetal Down syndrome and trisomy 181

Measures levels of AFP, hCG (human chorionic gonadotropin), and uE3 (unconjugated estriol)

Provides patient-specific risks for open spina bifida, Down syndrome, and trisomy 18

AFP Tetra

Detects at least 80% of fetal open neural tube defects, approximately 75% to 80% of fetal Down syndrome, and at least 60% of trisomy 182

Combines measurements of dimeric Inhibin A (DIA), AFP, hCG, and uE3

Provides patient-specific risks for open spina bifida, Down syndrome, and trisomy 18.

Amniotic Fluid Testing Amniotic Fluid AFP

Detects at least 98% of open neural tube defects1

Measures AFP in the amniotic fluid

All elevated results reflex automatically for AchE (acetylcholinesterase) and fetal hemoglobin testing

Tay-Sachs Biochemical Testing

Tay-Sachs disease is a lysosomal storage disease that causes neurological deterioration and usually death by age four. It

is caused by a deficiency of the hexosaminidase A enzyme. It is more common in Ashkenazi Jewish and French- Canadian populations. Carrier and diagnostic testing are available by biochemical enzyme analysis.

Measures hexosaminidase A and total hexosaminidase levels in leukocytes or serum

Identifies virtually all affected persons, including adult-onset Tay-Sachs

Identifies >99% of carriers3

Leukocyte testing can be utilized by pregnant women and those taking birth control pills

The LabCorp Advantage

Verbal reports given on positive results

Options for patient management included in reports

Board-certified genetic counselors and geneticists to assist in interpretation

Specialized genetics customer services staff

Patient-specific risks provided for fetal open spina bifida, Down syndrome, and trisomy 18

Results reported as MoM

 multiples of the median)

Recalculations available by telephone

Direct toll-free number

Molecular Genetics

Molecular genetics tests provide information to assist in the diagnosis of disorders caused by a single gene.

The number of diseases for which direct molecular testing is possible has rapidly increased. Although family histories are still important, molecular analysis has made it possible to test relatives at risk even if the affected person is not available. These molecular techniques have revolutionized carrier detection and prenatal diagnosis for many genetic disorders.

Typical Family History for Cystic Fibrosis CF Negative CF Carrier (Heterozygote) CF Affected (Homozygote)

Comprehensive Testing Results

Genetic testing can improve patient care and reduce medical costs by revealing inherited conditions before problems occur. Rapid advances in genetic research are transformed into cutting-edge genetic testing at LabCorp. We offer carrier screening, disease detection, and presymptomatic testing for a variety of inherited disorders. Our molecular genetics program provides comprehensive

testing results and tailored reports to assist the clinician in result interpretation and patient management. Some of the molecular genetic tests available through LabCorp are:

Canavan Disease

Congenital Bilateral Absence of the Vas Deferens

Cystic Fibrosis

Factor II (Prothrombin)

Factor V Leiden

Familial Adenomatous Polyposis (FAP)

Fanconi Anemia, type C

Fragile X Syndrome

Gaucher Disease

Hereditary Hemochromatosis

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Microdeletion Y Chromosome Testing (Infertility)

MTHFR (Methylenetetrahydrofolate Reductase)

Neurofibromatosis, Type 1

Niemann-Pick Disease, types A and B

Prader-Willi Syndrome

Sickle Cell Disease (hemoglobin A,S,C)

SRY (Sex-Determining Gene)

Tay-Sachs Disease

Twin Zygosity

Uniparental Disomy

The LabCorp Advantage

Single-page reports

Reports tailored for the reported family history and symptoms

Options for patient management and references included

Telephone consultation with board-certified genetic counselors and geneticists

Specialized genetics customer service

Note: Since some of these tests are new, Medicare and other carriers

may not treat them as a covered benefit for all patients.

Cytogenetics

(Chromosome Analysis)

Cytogenetics correlates structural and numerical changes in chromosomes with their clinical effects (phenotype). Individual chromosomes can be distinguished using various staining or banding techniques to create a unique pattern of light- and darkstained regions (bands) along the length of each chromosome. This banding allows recognition of each chromosome pair numbered 1-22 and the X and Y chromosomes, as well as a detailed analysis of their structure. High resolution chromosome analysis implements special techniques to extend the length and resolution of banding patterns, allowing better detection of minute chromosomal alterations that may be found, for example, in children with developmental delay. Chromosome analysis can be helpful when you have patients with

Prenatal

Abnormal maternal sera results

Advanced maternal age

Ultrasound anomalies

Parental balanced anomalies (ie translocations)

Multiple spontaneous abortions

Postnatal

Ambiguous genitalia

Birth defects

Dysmorphic features

Family history of chromosome abnormality

Mental retardation of unknown etiology

Primary or secondary amenorrhea

Male or female infertility

Acquired

Various leukemias, lymphomas, myeloproliferative disorders, cytopenias, and tumors

The LabCorp Advantage

G-banded analysis (Trypsin/Wright) for every specimen; other special banding methods (Q-banding, R-banding, etc), where warranted, at no additional charge.

Progress of slow growth (blood cell contamination, hypocellularity, or small volume) amniotic fluid cultures called on the tenth day after initiation if result is not yet obtained.

Full karyotypes sent with all reports.

All abnormal prenatal and newborn results telephoned and thoroughly explained.

In-house ancillary molecular and biochemical testing available.

Board-certified cytogeneticists are available to discuss testing options and to assist in the interpretation of results.

Fluorescence In Situ Hybridization (FISH)

Fluorescence in situ hybridization (FISH) analysis uses specific DNA probes to:

detect submicroscopic deletions associated with contiguous gene syndromes

identify unknown chromosome material

detect prenatal aneuploidy

analyze specific hematological disorders

ELN-LIMK Williams syndrome DNA probe with D75486, D75522 control site. Control Region

Deleted ELN Locus Control Region ELN Locus Fluorescence in situ hybridization (FISH)

technology has multiple applications for genetic testing:

Prenatal aneuploid screen (PAS)

Preimplantation blastomere FISH

Microdeletion syndromes

Hematological disorders

Opposite sex transplant monitoring

Idiopathic mental retardation(telomere analysis)

Prenatal Aneuploid Screen (PAS)

Direct prenatal interphase FISH analysis using probes for chromosomes 13, 18, 21, X, and Y is a rapid, relatively inexpensive, reliable cytogenetic adjunct assay for aneuploid detection.

PAS requires only 2mL to 5mL of amniotic f luid.

Routine turnaround time is 24 to 48 hours (Monday through Saturday), from receipt of a specimen at the testing laboratory. This result is followed by a full standard cytogenetic analysis approximately five to six days later. Note: Pregnancy management

decisions should not be made on PAS results alone.

PAS can also be performed on CVS tissue.

Microdeletion Syndromes

FISH allows visualization of extremely small regions of DNA directly on chromosome preparations (in situ) using fluorescence

microscopy. A partial list of microdeletion tests by FISH available at LabCorp can be found on the back page.

FISH analysis may also be performed on additional specimen types:

Bone marrow/blood/lymph nodes to evaluate leukemia/lymphoma changes

Formalin-fixed, paraffin-embedded tissue

Frozen tissue sections

Direct smears from blood or bone marrow

Buccal smears

The LabCorp Advantage

Color prints sent with reports

Broad test menu

Board-certified cytogeneticists available todiscuss results

Note: FISH results may provide diagnostic and/or prognostic

information; however, diagnostic or patient management

decisions should be made in the context of clinical symptoms.