Landon was seen by Dr Kayser the Tulsa, OK Geneticist. The last set of blood test he ran for Landon all came back negative. This means he knows nothing else to run for Landon. Landon has had blood work and testing since birth and every test has come back within normal levels and negative. I wanted to make a list of some of the test we have ran just to have it all in one place.
CK-creatine kinase
Free Thyroxine (T4)
TSH (Thyroid Stimulating Hormone)
Newborn Metabolic Screen (T4/PKU)-several times
Carnitine Level-several times
Caffeine (at least Monthly since 4 weeks old)
Chromosomal MicroArray Analysis
Myotonic Dystrophy (DMPK)
Prader-Willi Syndrome (SNRPN)
Spinal Muscular Atrophy (Types 1,2,3,&SMARD1)
Congenital Myasthenic Syndrome (CMS)-only 60% ruled out
Organic Acid Screen
Blood Amino Acids-Quantitative-the list is huge
Acylcarnitine Quantitative Profile
Blood Chromosomes-result 46, XY
Ven Lactic Acid
Ammonia Level
ACP
UOA-urine organic acid
SAA
NAIP-Gene, Protein
TK2-thymidine kinase 2 -mitochondrial DNA
Comprehensive Metabolic Panel-Sodium.Potassium.Calcium.Chloride.Carbon Dioxide.Glucose.Blood Urea Nitrogen (BUN).Creatinine.Total Protein.Albumin.Total Bilirubin.Alkaline Phosphatase (ALP).Aspartate Aminotransferase (AST).Alanine Aminotransferase (ALT).
Renal Function Panel
Very Long Chain Fatty Acid(VLCFA)-pending
Blood Gas-# of times...?
VMA-Vanillylmandelic acid
HVA-Homovanillic acid
PHOX2B-Congenital Central Hypoventilation Syndrome
