RobertaI had genetic testing done at Cornell University, New York, NY, Dr. Maria New. The blood was taken locally. The phone number is listed under another message or under the banner - click on people or medical sites (don’t remember which one - click on Dr. Maria New).
Yes - it was covered under my insurance - we had Blue Cross, Blue Shield. It is important to find out if other family members are carriers and to give appropriate genetic counseling. It is apparent that an untreated person may change from asymptomatic to symptomic nonclassical CAH within a lifetime. Implying that hidden symptoms are not necessarilarly absent. This is especially important with respect to potential damage to fertility by long term exposure to inappropriately elevated adrenal hormones. But it is unclear why some people with untreated CAH (non-classical) haver severe symptoms and other have very mild symptoms. Of course the severe symptoms (weight loss, unusal tiredness and weakness; dizziness when standing; low blood pressure, nausea, vomiting, diarrhea; loss of appetite; stomach ache; lower back pain; darken skin; children - premature sexual hair, growth or height spurts (but the bones fuse and then the person is short in statue), acne, facial hair gowth, irregular periods). If they have an adrenal crisis from not enough cortsol for an illness or injury - the blood chemistry is affect (salt and sugars are very low); blood pressure is very low, blood sugar is very low; brain swells, heart stops - death - adrenal shock!).
Ask if they are doing the HUMAN LEUKOCYTE ANTIGEN (HLA) test. You are are probably familiar with the way that red blood cells can be typed as type A, type 0, etc. White blood cells can be typed in a similar way. The typing is a way of looking at which cell surface porteins are on the white blood cells. These proteins are called human leukocyte antigens or HLA. These antigens are also important in determining immune functin and regulation, for instance, in organ transplantations. Within a family the gene for adreanl enzyme and genes for HLA are passed on together since they are located very close together on the sixth chromosome. The HLA type B14 is often seen with nonclassical 21-OHD and Bw47 is associated with classical salt wasting CAH 31-OHD. This test along with the 60-minute cortisol challenge test, helps establish if a person is a carrier.
You need to have BOTH the genetic testing and the 60-minute cortrosyn (cortisol) challenge test. Cortrosyn is synthetic ACTH, the hormone porduced naturally by the pituitary gland to stimulate the adrenal gland to mke adrenal hormones. Blood is drawn before the 60 minutes after the intravenous cortrosyn injection. Hormone levels are measured in both samples. If there is a nonclassical 21-hydroxylase deficiency, there is a block in ther steroid hormone pathway. A higher level of the precursor hormones, expecially 17-OHP and androstenedione, will result. NOTE: may sure the test is done before 6am and 8am.
Parents, siblings, and children of affect patients should be screened. Where feasilbe, the extended family should also be tested (grandparents, aunts, uncles, and first cousins). Remember - It is apparent that an untreated person may change from asymptomatic to symptomic nonclassical CAH within a lifetime.