Goldberg-Shprintzen Megacolon Syndrome via the KIFBP (KIAA1279/KIF1BP) Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8337 | KIFBP | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Goldberg-Shprintzen megacolon syndrome (GOSHS) is characterized by the presence of Hirschsprung (HSCR) disease, microcephaly, developmental delay and characteristic facies including hypertelorism and submucous cleft palate, with some individuals presenting with short stature and coloboma (Halal and Morel 1990). Polymicrogyria - developmental malformation of the cerebral cortex (PMG) (Brooks et al. 2005), foot anomalies including camptodactyly and clinodactyly of the 2nd to 4th toes (Murphy et al. 2006) have also been reported in some individuals. GOSHS shares many features with Mowat-Wilson syndrome, which is caused by mutations in the ZEB2 gene.
Genetics
Goldberg-Shprintzen syndrome is an autosomal recessive disorder (Yomo et al. 1991) of unknown prevalence which is associated with mutations in KIFBP (KIAA1279/KIF1BP). The gene encodes a kinesin family member 1 binding protein (KBP) that localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Though the protein function is not completely understood, it is thought to be required for the organization of axonal microtubules, axonal outgrowth and maintenance during peripheral and central nervous system development (Drévillon et al. 2013). Limited studies (approximately 15 cases) have identified mostly homozygous nonsense mutations in affected individuals (Brooks et al. 2005; Hurst et al. 1988), as well as frameshifts (Brooks et al. 2005, Drévillon et al. 2013).
Clinical Sensitivity - Sequencing with CNV PGxome
Clinical sensitivity cannot be estimated because only a small number of patients (approximately 15) have been reported (Brooks et al. 2005; Hurst et al 1988; Drévillon et al. 2013). Analytical sensitivity should be high because all mutations reported are detectable by this method.
Testing Strategy
This test provides full coverage of all coding exons of the KIFBP gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
Individuals with central (polymicrogyria) and enteric (HSCR) neural defects, microcephaly and/or facial dysmorphism may be considered for testing. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KIFBP.
Individuals with central (polymicrogyria) and enteric (HSCR) neural defects, microcephaly and/or facial dysmorphism may be considered for testing. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KIFBP.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| KIFBP | 609367 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Goldberg-Shprintzen Megacolon Syndrome | AR | 609460 |
Citations
- Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini G, Lequin MH, Coo RF de. 2005. Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems. The American Journal of Human Genetics 77: 120–126. PubMed ID: 1226183
- Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini G, Lequin MH, Coo RF de. 2005. Homozygous Nonsense Mutations in< i> KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems. The American Journal of Human Genetics 77: 120–126. PubMed ID: 15883926
- Drévillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, et al. 2013. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum. Mol. Genet. 22: 2387–2399. PubMed ID: 23427148
- Halal F, Morel J. 1990. The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation. Am. J. Med. Genet. 37: 106–108. PubMed ID: 2240026
- Hurst JA, Markiewicz M, Kumar D, Brett EM. 1988. Unknown syndrome: Hirschsprung’s disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. J Med Genet 25: 494–497. PubMed ID: 3172144
- Murphy HR, Carver MJ, Brooks AS, Kenny SE, Ellis IH. 2006. Two brothers with Goldberg-Shprintzen syndrome. Clin. Dysmorphol. 15: 165–169. PubMed ID: 16760737
- Yomo A, Taira T, Kondo I. 1991. Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. Am. J. Med. Genet. 41: 188–191. PubMed ID: 1785632
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.