LSD NBS Screening Follow-up

Our lab's combined experience with LSDs and NBS follow-up makes GGC a great partner to provide follow-up testing for your patients with abnormal newborn screening results.

We understand the logistics and urgency needed to follow-up an abnormal newborn screen, confirm the diagnosis, and promptly initiate treatment. Our laboratory has worked closely with the South Carolina NBS laboratory and the GGC metabolic treatment team to follow-up patients with an abnormal newborn screen for inborn errors of metabolism in the state of South Carolina for many years. We have recently expanded these services to other states for the follow-up of infants with abnormal NBS for lysosomal storage disorders.  Advantages of utlizing the GGC Diagnostic Lab for your state's LSD NBS follow-up:

  • Biomarker and/or molecular analysis from a DBS could be used as a second-tier NBS test, utilizing the DBS from the NBS laboratory and therefore preventing the need for a second specimen collection and producing faster results.
  • Expedited analysis is available upon request.
  • Our laboratory has been performing follow-up testing for states that have already implemented NBS for LSDs since this testing began more than two years ago. This includes the complex interpretation of MPS I pseudo-deficiency.
  • Specific requisition for simplified ordering

Aminoglycoside-induced Hearing Loss

Disorder Aminoglycoside-induced hearing loss
Gene Name MTRNR1
Clinical info Exposure to aminoglycoside antibiotics such as gentamycin and tobramycin can lead to sensorineural, bilateral, and severe-to-profound hearing loss.  A single base-pair substitution from an A to a G at position 1555 in the MTRNR1 gene (encoding 12S ribosomal RNA) predisposes individuals to aminoglycoside ototoxicity.  Evidence has shown that even a single dose of an aminoglycoside antibiotic results in irreversible hearing loss in Individuals with this mutation.  The hearing loss is not dependent on aminoglycoside exposure.  Approximately 40% of individuals with the A1555G mutation who have not been treated with aminoglycosides will develop hearing loss by 30 years of age, and the penetrance increases to 80% by age 65. The MTRNR1 gene is located within mitochondrial DNA, and the A1555G mutation is, therefore, transmitted by maternal inheritance.  The mutation occurs as a homoplasmic change and has a prevalence of approximately 1% in the U.S. population.
Indications Molecular testing is useful to confirm the diagnosis.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 2 weeks
CPT Codes 81401
Cost $350
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Marfan Syndrome (FBN1) Sequencing

Disorder Marfan syndrome
Gene Name FBN1
Clinical info Marfan syndrome is an autosomal dominant, highly variable disorder of connective tissue. Features of Marfan syndrome can include: pectus excavatum, reduced upper-to-lower segment ratio, wrist/thumb signs, scoliosis, joint hypermobility, high arched palate, ectopia lentis, dilatation or dissection of the ascending aorta, mitral valve prolapse, pneumothorax, and striae atrophicae. Specific diagnostic criteria for a clinical diagnosis of Marfan syndrome have been described.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Detection Sequencing of the FBN1 gene will detect mutations in approximately 70-93% of individuals with a clinical diagnosis of Marfan syndrome.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81408

Known mutation: 81403

Deletion/Duplication Analysis: 81405
Cost $1500 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Rett syndrome (MECP2) Sequencing and MLPA

Disorder Rett syndrome
Gene Name MECP2
Clinical info A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe intellectual disability. With an incidence of 1 in 10,000 - 15,000, it is one of the most common causes of intellectual disability in females. Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy. Most cases of Rett syndrome are caused by an abnormality (missense mutation, nonsense mutation or deletion) of MECP2.

Additionally, a specific phenotype has been identified in males with a MECP2 duplication that is identifiable by MLPA. These males display hypotonia that progresses to spasticity, severe intellectual disability and recurrent pulmonary infections. Females in these families who have the duplication are clinically unaffected and display a near total skewing of X-inactivation.

Sequencing of the MECP2 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests CDKL5 (STK9) atypical Rett syndrome sequencing, FOXG1 Congenital Rett syndrome variant sequencing, Rett/Angelman 2nd tier panel, X-Inactivation studies
Detection Sequencing of the MECP2 gene will detect mutations in approximately 80% of individuals with Rett syndrome. Of those with a normal sequencing result, approximately 15% will have a deletion or duplication identified by MLPA.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping.  FedEx is preferred.  If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature.  Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time Sequencing: 3 weeks
Deletion/Duplication: 3 weeks
CPT Codes Sequencing - unknown mutation
81302

Known mutation
81303

MLPA analysis for deletion/duplication analysis
81304
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
Cost $900 for sequencing
$350 for known mutation
$500 for MLPA analysis
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

MCAD Deficiency (ACADM) sequencing

Disorder Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
Gene Name ACADM
Clinical info Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common defect in mitochondrial beta-oxidation in humans. It is estimated that in the Caucasian population 1 in 50 individuals is a carrier and 1 in 10,000 live births will be affected. The disease shows an autosomal recessive pattern of inheritance and is characterized by a wide spectrum of clinical features including developmental delay, behavioral problems, fasting intolerance, and vomiting. Patients demonstrate hypoglycemia and medium chain dicarboxylic aciduria. If untreated the disease can lead to coma and premature death.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Detection

Sequencing of the ACADM gene should detect 95-100% of mutations in affected individuals.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping.  FedEx is preferred.  If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature.  Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 14 days
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation:  81479

Known mutation: 81403

Deletion/Duplication Analysis: 81405
Cost Unknown mutation: $1000

known mutation: $350

Deletion/duplication analysis: $700

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Study Participation

Eligible participants include individuals at all ages who have had complete MECP2 gene analysis and have the clinical diagnosis of classic or variant Rett syndrome, with or without mutations in the gene OR individuals without clinical Rett syndrome but with MECP2 mutations.

For more information, see the Rett syndrome study fact sheet or contact This email address is being protected from spambots. You need JavaScript enabled to view it. , study coordinator.