INHERITED CAUSES OF DEVELOPMENTAL DISABILITIES PANEL

Plasma Amino Acids, Urine Organic Acids, Lactate and Pyruvate, Urine Mucopolysaccharides, Urine Oligosaccharides, Urine Sulfites, Fragile X DNA, Very Long Chain Fatty Acids

From a single blood and urine sample, the “DD Panel” can test for over 100 different inherited genetic/metabolic disorders in individuals with developmental delay, neurological impairment, vision abnormalities, movement disorders and/or hearing loss.

Information for Parents, Physicians and Laboratories

If you are a parent, you can print out this information to discuss with your child’s health care provider to determine if the MR Panel is right for your family.

Table of Contents:

1. Why Should I Consider the MR Panel?
2. Tests Included in the DD Panel and Some of the Disorders Tested For
3. How Likely is It That the DD Panel Will Find Something?
4. Patient Preparation
5. Specimens Requirements, Preparation and Storage
6. Shipping
7. Billing Information/CPT Codes

1. Why Should I Consider the DD Panel?

Some children with development disabilities and/or other neurological conditions have genetic disorders that can be identified.

• Many of these disorders are inherited, often with a 25% risk that each new pregnancy from the same parents will be similarly affected.
• Many of these disorders can be tested for early in pregnancy, giving you the option of only giving birth to an unaffected child.
• Some of these disorders are somewhat treatable in the child, with specific diagnosis.

2. Tests Included in the DD Panel and Some of the Disorders Tested For:

Plasma Amino Acids:      For homocysteinuria, maple syrup urine disease, PKU*, and many other disorders.

Urine Organic Acids:      For methylmalonic acidemia, isovaleric acidemia, many other organic acidemias, many fatty acid oxidation disorders and many mitochondrial disorders.

Lactate and Pyruvate:            A screening test for many mitochondrial and other metabolic disorders.

Urine Mucopolysaccharides:    For Sanfilippo, Hunter, Hurler and other MPS storage disorders.

Urine Oligosaccharides:          For fucosidosis, mannosidosis and other carbohydrate storage disorders.

Urine Sulfites:                       For sulfite oxidase and disorders of the molybdenum cofactor.

Fragile X DNA:                       For fragile X, the most common cause of inherited development disabilities.

Very Long Chain                     

Fatty Acids:                           For peroxisomal disorders such as adrenoleukodystrophy.

All of the above disorders can cause mental retardation with little or no additional features.

*Most cases of PKU are detected by newborn screening, and in some states, recent advances in screening will detect some of the disorders in the above amino and organic acid columns. However, newborn screening will not detect the disorders that are the objects of most of the above tests.

We recommend that the panel be accompanied by high-resolution chromosome analysis. Since many individuals with development disabilities or other neurological problems have had chromosomes previously tested, chromosome analysis is not part of our DD Panel. We anticipate offering chromosome analysis soon as an optional add-on to the DD Panel.

3. How Likely is It That the DD Panel Will Find Something?

While no testing can find all genetic causes for neurodevelopmental conditions, our panel is designed to look for many of the more common genetic disorders as well as to identify cases in which treatment can make a positive difference. The chance that your child will test positive depends on many factors, including if your child/patient has one or more of the following features:

If your child/patient has none of the above features, we anticipate that the DD Panel will be positive is about a few percent. Having one or more of the above features increases the chance that the MR Panel will be positive, to as high as nearly 50% if many of the features are present.

As many of the individual tests in the DD panel are screening assays, a positive result may require more testing to determine or confirm the exact diagnosis. It is possible that the DD Panel will demonstrate an abnormality suggesting the possible presence of a genetic or metabolic disorder, for which additional testing cannot determine an exact diagnosis and/or will not lead to the option of prenatal testing.

4. Patient Preparation:

No patient preparation is needed. It is preferred however, that the patient not take anything by mouth, except water, for at least 3 hours before the blood is collected (for amino acid analysis).

5. Specimens Requirements & Preparation and Storage:

6. Shipping:

Specimens for this panel have a minimal likelihood that pathogens are present. The following instructions should be used for these specimens:

1. General packing steps:
   1. Use a leak-proof primary container. [eg. blood and plasma tubes and urine containers] Seal container tops with stretch wrap or Parafilm. Surround with absorbent material to absorb the entire contents of the primary receptacle(s) should they leak or rupture. Compliance will protect our laboratory receiving personnel and prevent contamination or compromise of your packed materials.
   2. Place primary container and absorbent into a leak-proof secondary container. [eg. Zip-lock bags or plastic jars]. Individually wrap or separate multiple fragile primary receptacles that are placed into a single secondary package.
   3. Place secondary packaging into a third protective outer packaging of adequate strength for its capacity, mass and intended use, and with at least one surface having minimum dimensions of 100 mm x 100 mm. [eg. Styrofoam boxes with or without a cardboard outer package]
2. Mark outer package:
   1. UN3373 “Diagnostic Specimen” and “Exempt Human Specimen”
   2. For dry ice shipping: UN1845 “Dry Ice” & add a Class 9 label with dry ice weight. Five pounds dry ice is usually adequate for shipping. Never seal dry ice packages.
   3. Ensure destination and return address with contact persons name and phone number are on all outer packages.

    

   Our Shipping address:

University Children’s Genetics Laboratory/ProGene, Inc.

116 E. Broadway

Glendale, CA 91205

Phone: (818) 548-0999            Fax: (818) 548-1555

7. Billing Information:

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