Clinical Biochemical Genetics
Laboratory Certification
The Clinical Biochemical Genetics Laboratory is certified by the College of American Pathology (License #15309-01) and by CLIA (License #10D0700790). We have participated in quality control tests/surveys administered by the College of American Pathologists and others.
Laboratory Personnel
Section Director: Ruben Bonilla Guerrero, M.D., FACMG
Manager: Sara M. Gellatly, CG (ASCP), MLT (ASCP)
Laboratory Hours
Monday - Saturday: 8 a.m. - 6:30 p.m.
Specimens are accepted 24/7 through the Main Clinical Laboratory. Please use our Genetics Laboratory Test Request form.
Facilities
Located in the Outpatient Care Center, the Clinical Biochemical Genetics Laboratory is a full-service facility equipped with state-of-the-art instrumentation. The Clinical Biochemical Genetics Laboratory provides services for the diagnosis and monitoring of inherited metabolic disorders through specialized biochemical testing of blood, urine and other body fluids. Testing supports the evaluation of infants, children and adolescents with suspected metabolic conditions and assists clinicians in the management of patients with known inborn errors of metabolism. The laboratory works closely with pediatric geneticists and other health care providers to deliver accurate, timely results that support patient care, treatment decisions and long-term disease management.
Contact Information:
Clinical Biochemical Genetics Lab: 727-767-2876
Director: Ruben Bonilla Guerrero, M.D., FACMG
Phone: 727-767-8616
E-mail: [email protected]
Manager: Sara M. Gellatly, CG (ASCP), MLT (ASCP)
Phone: 727-767-8687
E-mail: [email protected]
Biochemical Genetics Fax: 727-767-8514
Tests We Offer
Carnitine & Acylcarnitine Testing
- Free Carnitine (Quant), Plasma/Serum (AKA Carnitine)*
- Acylcarnitines (Quant), Plasma/Serum*
- Acylcarnitines with Carnitine (Quant), Plasma/Serum*
Amino Acid Testing
- Amino Acids (Quant), Plasma
- Amino Acids (Quant), Urine
- Amino Acids (Quant), CSF
- Leucine/Isoleucine/Valine/Alloisoleucine (Quant), Plasma (AKA MSUD Panel)
- Phenylalanine/Tyrosine (Quant), Plasma (AKA PKU Panel)
Organic Acids & Related Metabolites
- Urine Organic Acids (Quant), Urine
- Methylmalonic Acid, Serum
- Orotic Acid, Urine
- Carbohydrates (AKA Reducing Substances), Urine
Cofactor & Neurotransmitter Metabolism
- Biopterin Metabolites, Urine
- Dihydropteridine Reductase Activity, Blood Spots
- Succinylacetone, Blood Spot
- Delta-Aminolevulinic Acid (ALA) (Quant), Random Urine
Fatty Acid Disorders
- Comprehensive Free Fatty Acids, Serum
- Essential Free Fatty Acids, Serum
- Mitochondrial Free Fatty Acids, Serum
- Very Long Chain Fatty Acids, Serum
* This test was developed and its performance characteristics determined by Johns Hopkins All Children’s Hospital in a manner consistent with CLIA requirement. This test has not been cleared or approved by the U.S. Food and Drug Administration. These tests are performed at Johns Hopkins All Children’s Clinical Biochemical Genetics Laboratory
Peroxisomal & Lysosomal Testing
- Pipecolic Acid, Serum
- Pipecolic Acid, Random, Urine
- Plasmalogens, Blood
- Lysosomal Disorders Screen, Random, Urine
- Mucopolysaccharides Quantitative, Random, Urine
Porphyrin & Hemin Pathway Testing
- Total Porphyrins with Reflex to Porphyrins Fractionated (Quant), Plasma
- Total Porphyrins with Reflex to Porphyrins Fractionated (Quant), Whole Blood
- Porphyrins, Fractionated (Quant), Random Urine
- Porphyrins, Fractionated (Quant), Fecal
- Porphobilinogen (PBG) (Quant), Random Urine
- Protoporphyrin Fractionation (Quant), Whole Blood
Creatine & Purine/Pyrimidine Metabolism
- Creatine Biosynthesis Disorders Panel (Quant), Urine
- Purines and Pyrimidines Disorders Panel (Quant), Random Urine
Galactose & Carbohydrate Metabolism
- Galactose-1-Phosphate Uridyltransferase, Blood
- Galactosemia, GALT Gene, Full Gene Analysis, Whole Blood
Enzyme & Genetic Testing
- Biotinidase Activity, (Serum)
- Biotinidase Gene Sequencing
Homocysteine & Related
- Total Homocysteine, Serum
Contact Information
Clinical Biochemical Genetics Lab: 727-767-2876
Director: Ruben Bonilla Guerrero, M.D., FACMG
Phone: 727-767-8616
E-mail: [email protected]
Manager: Sara M. Gellatly, CG (ASCP), MLT (ASCP)
Phone: 727-767-8687
E-mail: [email protected]
Biochemical Genetics Fax: 727-767-8514