Pre- and postnatal growth failure can be caused by mutations in the IGF1 (insulin-like growth factor 1) or IGF1R (insulin-like growth factor 1 receptor) genes. Autosomal recessive mutations in IGF1 cause insulin-like growth factor I deficiency (MIM 608747), which is characterized by microcephaly, intellectual disability, and deafness in addition to the growth failure.read more

Tests Available

By gene: IGF1R
Sanger Sequencing
$1,145
Test Code: 2090
Deletion / Duplication
$680
Test Code: 2091
Sanger/Del Dup Comprehensive
$1,725
Test Code: 2092

Test Details

Technical Information
Genes: 
IGF1R
Disease Groups: 
Metabolic and Endocrine Disorders
MIM: 
270450
Billing
Price: 
$1,145
CPT Codes: 
81479 x 1
Ordering
SKU:
2090
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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