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Physician: Patient Care: DNA Diagnostics

The DNA Diagnostics Lab at Johns Hopkins (CLIA #21D0692357) is offering DNA sequence analysis on a fee for service basis.

GENES:
Fibroblast growth factor receptor (FGFR)
FGFR1 exon 7 [MIM 136350]
FGFR2 exons 8 & 10 [MIM 176943]
FGFR3 exon 7 [MIM 134934]

Gap junction protein alpha 1 (GJA1)
Gap junction protein alpha 1 [MIM 121014] [GenBank NM_000165]

TCOF1
TCOF1 [MIM 606847] [GenBank U76366]

TWIST (TWIST)
TWIST [MIM 601622] [GenBank U80998]

CONDITIONS:
Clinical Diagnosis DNA Sequence Screened Mutation Detection Rate
Apert Syndrome
[MIM 101200]		 
FGFR2 exon 8

99%
Coronal Synostosis
[MIM 304110]		 
FGFR2 exons 8 & 10
FGFR3 exon 7

14-52%
Crouzon Syndrome
[MIM 123500]		 
FGFR2 exons 8 & 10
FGFR3 exon 7

> 90%
Jackson-Weiss Syndrome
[MIM 123150]		 
FGFR2 exons 8 & 10
FGFR3 exon 7

> 99%
Oculodentodigital Dysplasia
[MIM 164200]		 
GJA1 exon 2, coding region

>99%
Pfeiffer Syndrome
[MIM 101600]		 
FGFR1 exon 7
FGFR2 exons 8 & 10
FGFR3 exon 7

> 85%
Saethre-Chotzen Syndrome
[MIM 101400]		 
TWIST
FGFR2 exon 8
FGFR3 exon 7

68%
Treacher Collins syndrome
[MIM 154500]		 
TCOF1 exons, all 25 coded exons

93%

Contact Information:

DNA Diagnostic Lab
Tel: (410) 955-0483
bkarczes@jhmi.edu

For clinical genetics services, see The Johns Hopkins Genetics Clinics

Relevant Link: GeneClinics

Last Updated: 11/12/03

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