1 able that can be used to confidently provide carrier detection.

2 gene copy number in the diagnosis of PMD and carrier detection.

3 including atypical disease presentations and carrier detection.

4 w challenges have been identified related to carrier detection and inconclusive diagnoses.

5 the disease, prevention of new cases through carrier detection and prenatal diagnosis becomes extreme

6  now well established, and implementation of carrier detection and prenatal diagnosis has dramaticall

7 sulting in improved Glanzmann thrombasthenia carrier detection and prenatal diagnosis, assays to iden

8 e clinical diagnosis of XLID and allowed for carrier detection and prevention strategies through game

9 t from new findings regarding sweat testing, carrier detection, early pathophysiology, and clinical o

10 utations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identific

11                  Direct diagnosis will allow carrier detection in families with a single affected mal

12   In addition, SSCP analysis permitted rapid carrier detection in two families in whom the source of

13 SCP analysis for both mutation detection and carrier detection in X-linked hyper IgM syndrome.

14 may play a significant role in diagnosis and carrier detection of BRCA1-associated breast and ovarian

15 entially facilitating prenatal diagnosis and carrier detection of MSUD in this group.

16  genetic analysis for prenatal diagnosis and carrier detection of the hereditary disorder.

17 PS and will greatly facilitate diagnosis and carrier detection of this severe disorder.