Members of the IU genetics testing laboratory (IUGTL) and the Indianapolis Zoo teamed up to solve a medical mystery. Testing provided at the molecular and biochemical genetics laboratories within the IUGTL helped to diagnose a young orangutan with the rare inherited metabolic condition Alkaptonuria. The story was recently published in the Journal Molecular Genetics and Metabolism.
TEST UPDATE: Blood spot acylcarnitine testing now available
Our high resolution acylcarnitine test (TEST 4000) and associated sub-panels (TEST 4010, 4020, 4030, 4040, 4050, and 4060) can now be ordered on blood spot cards. Blood spot acylcarnitine testing should be ordered whenever Carnitine Palmitoyl Transferase 1 (CPT1) deficiency is suspected. Blood spot acylcarnitine testing provides much higher sensitivity compared to plasma acylcarnitine testing for CPT1. For other organic acidemias or fatty acid oxidation disorders, plasma acylcarnitine testing is preferred but blood spot acylcarnitine testing can be considered when plasma collection/shipment is challenging.
Sept 30, 2022
Advancing acylcarnitine testing
Acylcarnitines are important biomarkers of fatty acid oxidation and mitochondrial metabolism. Traditional acylcarnitine tests, including newborn screening, can give ambiguous results due to an inability to distinguish different compounds of the same mass.This month the IUBGL published a novel acylcarnitine assay that overcomes many of the limitations of existing approaches.This method is the basis of our expanded acylcarnitine analysis (see mock report).
Carbonic Anhydrase 5A deficiency (CAVA) is an ultra-rare metabolic disease that is associated with a number of unique biochemical genetic abnormalities. In this disorder, clinical symptoms and laboratory findings can be subtle and sporadic likely resulting in under diagnosis. In a report recently published in the journal Clinical Chemistry, we describe the IU metabolic group’s experience diagnosing a patient with CAVA deficiency.
Overview of the IU Biochemical Genetics Laboratory
When starting the IUBGL, we viewed test development as a unique opportunity to innovate improved methods as opposed to simply copying existing approaches.At this week’s IU School of Medicine Medical and Molecular Genetics Departmental seminar series, Dr. Miller explains the process of building the IUBGL and highlights the unique advantages of our novel amino acid, acylcarnitine and urine organic acid tests.
We've partnered with Sunquest Mitogen to create a web-based portal for our laboratory testing. Now, clinicians from any institution can order testing and receive results from the IUBGL via a secure web interface.Additional advantages include automated notifications that alert clients when new reports are available and historical tracking of patient lab values (see example). This is particularly advantageous for tests used to monitor patient diet/treatment such as blood spot phenylalanine analysis. Contact the lab for more information.
April 1, 2021
High marks in external quality assessment
2020 marked the first year our lab participated in the excellent proficiency testing (PT) schemes put together by our European colleagues at the ERNDIM. PT involves the blinded analysis of specimens and comparison of results between peer institutions. This external assessment is one of many activities we do to help guarantee the quality of our testing. For our lab's analyte specific PT results see: serum amino acids, special assays in serum, and special assays in dried blood spots.
January 12, 2021
TEST UPDATE: Amino acid panels expanded
We've expanded the list of analytes covered in our amino acid tests to include creatine, creatinine, suflocysteine, homocystine, and delta-amino-levulinic acid enabling the detection and management of patients with GAMT deficiency, x-linked creatine transporter deficiency, AGAT deficiency, sulfite oxidase deficiency, molybdenum cofactor deficiencies, inherited and acquired vitamin B12 deficiencies, homocystinuria, tyrosinemia type 1, and porphyrias. This expansion is made possible by the unique LC-MS/MS method we developed to analyze underivatized specimens.
April 9, 2020
A glimpse into our Amino Acid method
Clinical amino acid analyses are important for diagnosis and on-going management of a wide variety of inborn errors of metabolism. Existing approaches to amino acid analyses can lack specificity and require long sample analysis times. To overcome these challenges, we developed a novel LC-MS/MS amino acid workflow. The result is a simple and quick method that provides comprehensive coverage. A key component of this method was recently published in the Journal of Chromatography B.
Today, the Biochemical Genetics Laboratory officially opens for business! This marks the beginning of what we hope is a long and productive journey at IU School of Medicine. One year ago our laboratory was an unfinished space with big plans. Today we launch a clinically validated test menu that includes the core biochemical genetics assays. We are excited to continue to build the lab and to find novel ways to improve the diagnosis and management of patients with inherited metabolic diseases.