laboratory updates

laboratory updates



Lab Update 49 - Next Generation Sequencing for diagnosis of Rett Syndrome and related disorders

Mar 11, 2024 | Genetics

Next Generation Sequencing Rett Syndrome Neurological Disorders

Ampath has recently implemented an in-house designed and validated NGS panel, run on the Ion Torrent platform. This panel is combined with a commercial MLPA kit, allowing for the detection of deletions/duplications in order to investigate and diagnose these conditions more effectively....

Lab Update 48 - Updated Screen for Sexually Transmitted Infections

Feb 29, 2024 | Immunology

Sexually Transmitted Infections (STIs)

The updated STI screen at Ampath, available from 27 February 2024, has been updated in line with current guideline recommendations and can be performed with or without HIV testing. Results are available 24 to 48 hours after receipt of the sample at the testing laboratory....

Lab Update 47 - Anti-phospholipid Syndrome Laboratory Testing

Nov 29, 2023 | Haematology

Immunology Haematology Anti-phospholipid Syndrome (APS)

Anti-phospholipid syndrome (APS) is an acquired autoimmune disorder that manifests clinically as recurrent venous or arterial thrombosis and/or pregnancy morbidity, with proven persistent laboratory evidence of antibodies against phospholipids (aPL). It is recommended to use the revised Sapporo APS Classification Criteria (also known as the Sydney criteria) to diagnose a patient with suspected APS. Ampath now offers the APS profile for diagnosis....

Lab Update 46 - FLT3 and NPM1 PCR Testing in Acute Myeloid Leukaemia

Nov 16, 2023 | Molecular Genetics

Leukaemia FLT3 PCR NPM1 PCR

To better align with the latest international AML management guidelines, Ampath Genetics is now offering targeted PCR-based testing for FLT3-ITD/TKD, as well as common NPM1 variants, at a markedly reduced turnaround time....

Lab Update 45 - The Anti-PLA2 Receptor Antibodies Test

Oct 09, 2023 | Immunology

Primary membranous nephropathy Kidney disease Anti-PLA2 Antibodies

Membranous nephropathy (MN) is characterised by a thickening of the glomerular capillary walls due to immune complexes that are formed on the outer surface of the basement membrane. MN is the most common cause of nephrotic syndrome in adults without underlying diabetes mellitus. The diagnosis of MN should be considered in all adult patients who present clinically with nephrotic syndrome (including features such as proteinuria, hypoalbuminemia, edema and weight gain)....

Lab Update 44 - Genital Ulcer Multiplex PCR

Aug 29, 2023 | Microbiology

Infectious Diseases Sexually Transmitted Infections (STIs)

The presence of genital ulcers increases the risk of acquiring HIV. These patients may be co-infected with other sexually transmitted pathogens, hence accurate diagnosis and appropriate management is important....

Lab Update 43 - Sexually Transmitted Diseases Multiplex PCR (STD PCR)

Aug 28, 2023 | Microbiology

Infectious Diseases Sexually Transmitted Infections (STIs)

Sexually transmitted infections not only lead to embarrassing symptoms, but people with STIs are more likely to acquire and transmit human immunodeficiency virus (HIV). Sexually transmitted infections can also lead to infertility, chronic pelvic pain, ectopic pregnancies, miscarriages, and congenital and neonatal infections. The proper diagnosis, management and prevention of these infections is therefore of vital importance....

Lab Update 42 - The Oncomine™ Precision Assay Liquid Biopsy

Jul 10, 2023 | Genetics

Malignancy Non-small cell lung carcinoma

Ampath is a leading provider of comprehensive genetic testing in South Africa. The Oncomine™ Precision Assay is the latest in a string of state-of-the-art technologies being offered that allows for the simultaneous investigation of several solid tumour malignancies using a singular approach....

Lab Update 41 - BioFire Filmarray Meningitis/Encephalitis (ME) Panel

Jun 07, 2023 | Immunology

Encephalitis CNS Infections Meningitis

Central nervous system (CNS) infections have a high morbidity and mortality. Early detection of the offending pathogen and directed therapy is of paramount importance to improve patient outcomes and guide infection control measures. Molecular diagnostic tests have dramatically impacted the diagnosis and management of CNS infections, as these are more rapid and sensitive than conventional culture and antigen detection methods. The BioFire Meningitis/Encephalitis panel offers a syndromic test approach, detecting 14 of the most common bacterial, viral and fungal causes of CNS infections within a rapid turnaround time....

Lab Update 40 - Pharmacogenomics PGX120 Panel

Jun 05, 2023 | Genetics

Pharmacogenomics Medication response

Pharmacogenomic testing aims to identify unique genetic changes that can be used to predict a patient’s response to certain medications, as well as their risk of developing adverse drug reactions. We are proud to announce the upgrading of our existing PGx60 panel to the new and more comprehensive PGx120 Pharmacogenomics panel. Our newly upgraded panel provides genotype-based dosing guidance for 15 additional frequently prescribed medications (150 in total) across various clinical disciplines. Several new pharmacogenes have been added (+23), as well as numerous additional alleles of previously reported genes, including those that are known to be more prevalent in our African population groups....

Lab Update 39 - Enterovirus Laboratory Testing

Jun 02, 2023 | Microbiology

Enterovirus

Enteroviruses are common human pathogens, transmitted mainly through the faecal oral route or, less commonly, the respiratory route. Enteroviruses present with a wide spectrum of clinical manifestations, ranging from mild to severe. Clinically, enteroviruses can be divided into polio and non-polio enteroviruses. Non-polio enteroviruses include coxsackie A viruses, coxsackie B viruses, echoviruses and other “newer” enteroviruses such as enterovirus A71 and enterovirus D68. The appropriate diagnostic test depends on where the patient is in the course of the disease....

Lab Update 8.2 - Respiratory Multiplex PCR Panels

Jun 01, 2023 | Immunology

Respiratory Respiratory PCR

Ampath has a range of panels to detect respiratory pathogens. These include smaller, targeted panels, as well as more comprehensive panels. The choice of test is determined by the requesting clinician based on their clinical assessment, suspected respiratory pathogen, urgency of result, cost and patient medical scheme reimbursement considerations....

Lab Update 38v2 - Introducing the ALEX2 Test

May 18, 2023 | Immunology

Allergies Allergy Test

(Updated February 5, 2024) The diagnosis of an allergy involves thorough history taking and diagnostic blood, skin prick and/or provocation tests. Blood tests can be divided into IgE-mediated and non-IgE-mediated tests. Blood tests for specific IgE antibodies against allergens are safe and do not require medication to be withdrawn prior to testing. The IgE-mediated blood tests consist of screening panels (Phadiatop inhalant and food mix IgE) and specific IgE tests directed at individual allergen extracts with or without allergen molecular components....

Lab Update 37 - Non-Invasive Prenatal Testing (NIPT)

May 17, 2023 | Genetics

Non-Invasive Prenatal Testing

Non-invasive prenatal testing (NIPT) is a prenatal screening test that is performed using maternal peripheral whole blood samples. The test calculates the risk of a foetus being affected with certain chromosomal abnormalities. From February 2023, Ampath will be offering the CentoNIPT® test, performed by CENTOGENE in Rostock, Germany....

Lab Update 36 - Malaria Testing 2022

May 16, 2023 | Microbiology

Malaria Malaria Testing

Even though standalone tests may be used to confirm the diagnosis of malaria, they have limitations (Table 2). Good diagnostic practice favours the use of malaria test combinations to enhance prompt and correct diagnosis....

Lab Update 35 - INVESTIGATING MATURE T-CELL CLONALITY BY FLOW CYTOMETRY WITH NOVEL ANTI-TRBC1

May 15, 2023 | Haematology

TRBC1 is a fast, cost-effective and robust method for αβ T-cell clonality assessment, supporting the diagnosis of T-cell neoplasia....

Lab Update 34 - Candida Auris Screening

Apr 04, 2023 | Microbiology

C. auris screening culture C. auris screening PCR

We are offering screening for colonisation with Candida auris. There are two modalities available: culture-based screening and PCR....

Lab Update 33 - The Biofire FilmArray Pneumonia Panel Plus

Apr 03, 2023 | Microbiology

Community-acquired Pneumonia (CAP) Hospital-acquired Pneumonia (HAP) Ventilator-acquired Pneumonia (VAP)

Severe community-acquired pneumonia (CAP), hospital-acquired pneumonia (HAP) and ventilator-acquired pneumonia (VAP) continue to result in high morbidity and mortality. The Biofire FilmArray Pneumonia Panel Plus (Biomérieux) is an FDA-cleared, CE-marked multiplexed nucleic acid amplification test for the simultaneous detection of multiple respiratory viral and bacterial pathogens in sputum-like (sputum and endotracheal aspirate) and bronchoalveolar lavage specimens. Results are rapidly available, with a run time of approximately one hour from loading onto the instrument....

Lab Update 32 - The new Enteric Multiplex PCR

Apr 02, 2023 | Microbiology

Gastroenteritis

Gastroenteritis is one of the most common infectious disease syndromes, with an estimated 2.4 billion episodes occurring worldwide annually. We are implementing a cost-effective multiplex PCR, which includes the most common bacterial and parasitic stool pathogens detected in our setting as an initial screen for patients presenting with acute gastroenteritis....

Autoimmune Diagnostic Workup

Nov 09, 2022 | Immunology

Autoimmunity

Connective tissue disease (CTD) is a heterogeneous group of diseases characterised by antinuclear antibodies (ANA), as well as other distinctive autoantibodies. In the first version of this LabUpdate, we announced a simplified approach to the diagnosis of CTD, with updated antibody profiles and terminology. In this drastically changing milleu, with ever-increasing cost-to-patient considerations, the latest developments (with updated terminology on available autoimmune profiles) are described in this update....

LabUpdate 31 - An Update on Connective Tissue Disease Diagnosis

May 01, 2022 | Immunology

Autoimmunity

Ampath is pleased to announce a simplified approach to the diagnosis of connective tissue disease, with updated antibody profiles and terminology....

LabUpdate 30 - The Oncomine(TM) Myeloid Assay GX

Mar 31, 2022 | Genetics

Oncology

The Oncomine(TM) Myeloid Assay GX (OMAGEN) offers a unique solution to this challenge by using targeted next-generation sequencing (NGS) to detect all clinically relevant myeloid genetic biomarkers, mutations and fusions, all in one assay....

LabUpdate 29 - The Oncomine™ Precision Assay

Mar 01, 2022 | Genetics

Oncology

The Oncomine™ Precision Assay is a next-generation sequencing (NGS) solution....

Lab Update 26 - COVID-19 vaccine side-effects: The essential facts

Aug 01, 2021 | Immunology

COVID-19 Infectious Diseases

Social media is flooded with false information regarding the risks associated with the COVID-19 vaccination. Patients often turn to doctors for answers. If we are not able to address their concerns, patients may miss out on this potentially life-saving vaccination....

Lab Update 25 - COVID-19 Delta Variant

Jul 02, 2021 | Microbiology

COVID-19 Infectious Diseases

The Delta SARS-CoV-2 variant was first detected in India in October 2020, and has since spread to 85 countries globally. As a result of its enhanced transmissibility, it has rapidly become the dominant strain in many countries....

Lab Update 24 - Laboratory diagnosis and monitoring of schistosomiasis in South Africa

Jul 01, 2021 | Microbiology

Infectious Diseases

The laboratory diagnosis of schistosomiasis is challenging and particularly difficult in the setting of early and low-grade infections. This update serves to provide an overview of the diagnostic process....

Lab Update 22 – LDL Cholesterol Targets

May 01, 2021 | Chemical Pathology

Low-density lipoprotein (LDL) cholesterol (LDL-C) is a well known target for therapy in patients with hyperlipidaemia. Retention of LDL-C and other cholesterol-rich apolipoprotein (Apo) B-containing lipoproteins within the arterial wall is considered an initiating event in atherogenesis....

Lab Update 21 - Iron Deficiency in Pregnancy

Feb 01, 2021 | Chemical Pathology

It is estimated that 30% of women of reproductive age have anaemia. Among pregnant women, the prevalence is even higher with the WHO estimating that over 40% of pregnant women globally have anaemia....

Lab Update 20 - Adult HIV Diagnosis

Jul 01, 2020 | Microbiology

Infectious Diseases HIV

The standard approach to the laboratory diagnosis of HIV infection in adults and children older than 18 months is to detect the presence of HIV-specific antibodies in a blood specimen, usually by means of an enzyme-linked immunosorbent assay (ELISA). Screening HIV ELISA tests are designed to be extremely sensitive tests so that the negative predictive value of the tests is almost 100% (excluding those with window period infections). Most commercially available HIV ELISA assays detect HIV antibodies and the p24 antigen simultaneously, thereby reducing the window period of these tests. The downside to having a sensitive screening test is that false positive results may occur in a small percentage of positive specimens, which is why internatio...

Lab Update 19 - N-Terminal Procollagen-III Peptide

Jul 01, 2020 | Chemical Pathology

Type III collagen is an important component of connective tissue. N-terminal procollagen-III peptide (P3NP) is a cleavage product of the precursor of Type III collagen and is formed in equimolar proportions to Type III collagen. Serum levels of P3NP can therefore be used as a measure of Type III collagen and reflects the rate of extracellular matrix synthesis or breakdown....

Lab Update 18.2 - Role Of Cardiac Troponin Testing In COVID-19

Jul 01, 2020 | Chemical Pathology

COVID-19 Infectious Diseases

Increased high-sensitive cardiac troponin (hs-cTn) is a marker of myocardial injury, irrespective of the mechanism, and does not equate to acute myocardial infarction (MI)....

Lab Update 18.1 - Role Of Inflammatory Marker Testing In COVID-19

Jun 01, 2020 | Immunology

COVID-19 Infectious Diseases

Accumulating evidence suggests that inflammatory responses play a critical role in the progression of COVID-19. The inflammatory response is triggered by rapid viral replication of SARS-CoV-2 and cellular destruction, leading to the recruitment of macrophages and monocytes and the induction and release of cytokines. These cytokines attract more immune cells and further activate the immune response, leading to a “cytokine storm”....

Lab Update 18 - Lab Monitoring Of Patients With COVID-19

Jun 01, 2020 | Microbiology

COVID-19 Infectious Diseases

The laboratory plays a crucial role in the diagnosis of COVID-19 through the use of real-time reverse transcription polymerase chain reaction (rRT-PCR) for the detection of unique sequences of viral RNA. Subsequently, it also provides critical haematological and biochemical tests for assessing disease severity and progression, as well as for monitoring therapeutic intervention....

Lab Update 14 (Version 2) - Genetic Testing For FMR1 Disorders

Jan 01, 2020 | Genetics

The FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). FXS is the most common single gene cause of intellectual disability with an estimated prevalence of 1/4000 to 1/6000. Almost all cases are caused by the expansion of an unstable trinucleotide (triplet) (CGG) repeat in the 5’ untranslated region of the FMR1 gene....

Lab Update 13 - First Trimester Pre-Eclampsia Screening

Nov 02, 2019 | Chemical Pathology

Pre-eclampsia (PE) is a major cause of maternal and neonatal morbidity and mortality, especially at early-onset (delivery at <34w gestation). Complications of PE include intracranial haemorrhage, HELLP syndrome, eclampsia, pulmonary oedema, renal failure, abruptio placentae, foetal growth restriction, intrauterine foetal death and preterm birth. Maternal future risks include cardiovascular, cerebrovascular or renal disease. Future risks to offspring born from affected pregnancies include hypertension, coronary artery disease and insulin resistance. In a South-African context, the prevalence of PE and severe PE is reported as 5.75% and 1.43% respectively. Global prevalence of PE varies between 2-5%....

Lab Update 11 - Molecular Assay For ID Of Mycobacterium Species

Nov 01, 2019 | Microbiology

Infectious Diseases

Non-tuberculous mycobacteria (NTM) are free-living ubiquitous organisms. More than 200 different species of NTM have been identified by using molecular techniques. The pathogenic potential of different NTM varies. Accurate identification to species level and discrimination from Mycobacterium tuberculosis complex is thus essential in determining the clinical relevance and guiding patient management. The GenoType CM direct assay is a molecular test for the identification of M. tuberculosis complex as well as clinically relevant NTM directly from clinical specimens. This assay is an adjunct to Mycobacterial culture in any patient in which NTM disease is suspected and may be especially useful where microscopy of clinical specimens is positive f...

Lab Update 12 - Voriconazole

Sep 01, 2019 | Microbiology

Infectious Diseases

The pharmacokinetic and pharmacodynamic (PK/PD) variability of voriconazole makes it a difficult drug to dose. It has a narrow therapeutic index, meaning that there is a narrow margin between the levels needed for therapeutic activity and the levels at which toxicity occurs. To achieve potential efficacy, trough levels of between 1 and 5.5 mg/L are needed. In patients with severe infections e.g. multifocal or disseminated disease, CNS infection, or infection with a pathogen with elevated MICs, a trough level of 2-6 mg/L is recommended. The potential for toxicity, especially neurotoxicity, increases significantly at levels of ≥6 mg/L....

Lab Update 10 - Urine Methylhistamine

Jul 01, 2019 | Chemical Pathology

Histamine turnover increases due to increased activity (allergic reactions) or proliferation (mastocytosis) of mast cells or basophils. Histamine is released intermittently and has a short half-life, thus measurement of urine 1-methylhistamine (N-Tele-methylhistamine, 1-MHIS), a major metabolite of histamine, has better sensitivity and specificity. Urine 1-MHIS testing is available at Ampath Esoteric Sciences by GC-MS/MS methodology....

Lab Update 9 - Bacterial Vaginosis Panel

Jun 01, 2019 | Microbiology

Infectious Diseases

Bacterial vaginosis (BV) is a condition characterised by an alteration in vaginal flora and is one of the most common causes of vaginal discharge in women of reproductive age. Bacterial vaginosis is associated with an increased risk of contracting sexually transmitted infections, including HIV, the development of pelvic inflammatory disease, as well as poor reproductive outcomes, notably, preterm delivery. Timely diagnosis and treatment of BV is essential to avoid these complications....