The demand for molecular genetic testing has increased for prenatal risk assessment, the diagnosis of neurological disorders and carrier detection in affected families. Authoritative bodies (ACOG, AGMG, ASHG) have issued recommendations regarding carrier screening. Below please find a sampling of the recommended tests which are offered by LENETIX^®

Name of Syndromes - Condition - Disease or Genetic Anomaly Test Code Expect Results in Hour and/or Business Days Ashkenazi Jewish Carrier 9 Screen 3417 2 to 5 Days Bloom Syndrome 1278 10 to 14 Days Cystic Fibrosis 1341 2 to 4 Days CF (5T-Allele) 1800 2 to 5 Days Canavan Disease 1508 10 to 14 Days Familial Dysautonomia 3135 10 to 14 Days Familial HyperInsulinism 1788 14 to 28 Days Fanconi Anemia Group C 738 10 to 14 Days Fragile X Syndrome 2006 7 to 14 Days Gaucher Disease 1509 10 to 14 Days Glycogen Storage Disease Type 1A 318 10 to 28 Days Maple Syrup Urine Disease 319 10 to 28 Days Mucolipidosis Type IV 6410 10 to 14 Days Niemann-Pick Disease (A & B) 3127 10 to 14 Days RhD & SRY Genotyping 1118 3 to 5 Days Sickle Cell Anemia 243 10 to 14 Days SRY, X & Y 2312 3 to 5 Days Tay-Sachs DNA (Reflex) 558 10 to 14 Days Y Chromosome Microdeletetion 2313 2 to 5 Days

Jewish Ashkenazi Carrier 9 Risk Assessment Panel:(Cystic Fibrosis, Tay-Sachs, Canavan Disease, Gaucher Disease, Fanconi Anemia Complementation Group, Familial Dysautonomia, Mucolipidosis Type IV)

DNA Definition

The DNA molecule consists of two strands that wrap around each other to resemble a twisted ladder whose sides are connected by rungs of nitrogen- containing chemicals called bases.

Each strand is a linear arrangement of repeating similar units called nucleotides. Each nucleotide is composed of one sugar, one phosphate, and a nitrogenous base. Four different bases are present in DNA: adenine (A), thymine (T), cytosine (C), and guanine (G). The DNA sequence in this particular order of the bases is called the DNA sequence; the sequence specifies the exact genetic instructions required to create a particular organism with its own unique identity.

During cell division the DNA molecule unwinds and the weak bonds between the base pairs break, allowing the strands to separate. Each strand directs the synthesis of a complementary new strand. Strict base- pairing rules are adhered to adenine will pair only with thymine (an A- T pair) and cytosine with guanine (a C- G pair). Each daughter cell receives one old and one new strand. The cells adherence to these base- pairing rules ensures that the new strand is an exact copy of the old one. This system minimizes the incidence of errors (mutations) that may greatly affect the resulting organism or its offspring.

Gene Definition

Each DNA molecule contains many genes -- the basic physical and functional units of heredity. A gene is a specific sequence of nucleotide bases, whose sequences carry the information required for constructing proteins. Proteins provide the structural components of cells and tissues as well as enzymes for essential biochemical reactions. The human genome is estimated to comprise more than 30,000 genes.

The protein- coding instructions from the genes are transmitted indirectly through messenger ribonucleic acid (mRNA), a transient intermediary molecule similar to a single strand of DNA. For the information within a gene to be expressed, a complementary RNA strand is produced (a process called transcription) from the DNA template in the nucleus. This mRNA is moved from the nucleus to the cellular cytoplasm, where it serves as the template for protein synthesis.